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Mohr, Christina. "BRCA1- und BRCA2-Mutationsträger." Diss., Ludwig-Maximilians-Universität München, 2014. http://nbn-resolving.de/urn:nbn:de:bvb:19-172139.
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Mavaddat, Nasim. "Risk modelling in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610839.
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Batista, Rui Pedro Monteiro. "Caracterização das mutações dos genes BRCA1 e BRCA2." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10136.
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Mestrado em Biologia Molecular e CelularO cancro da mama é o tipo de neoplasia maligna mais incidente nas mulheres a nível mundial. Na maior parte dos casos tem origem esporádica, mas estima-se que cerca de 7% tem origem hereditária, relacionada com a herança genética de alguma mutação patogénica em genes de suscetibilidade para este cancro. A causa mais frequente de cancro hereditário da mama/ovário é a alteração de um dos genes BRCA (BRCA1 ou BRCA2). De fato as mutações germinativas destes genes são responsáveis por cerca de 50% dos casos de cancro hereditário da mama e/ou ovário. São ainda poucos os dados referentes ao perfil de mutações destes genes na população portuguesa, para além da descrição de uma mutação fundadora no gene BRCA2. Pretendeu-se com o presente estudo caracterizar, numa amostra de doentes portugueses com suspeita de cancro hereditário da mama/ovário, as mutações destes dois genes, avaliando os diferentes tipos de mutações encontradas, a prevalência de mutações comprovadamente patogénicas e, nomeadamente da mutação fundadora portuguesa. Pretendeu-se também testar o algoritmo de cálculo BRCAPro® no auxílio ao recrutamento para estudo genético de pacientes com suspeita de HBOC. Dos 121 casos estudados por DGGE/sequenciação direta/MLPA, foram detetados 42 casos (34,7%) com alterações num dos BRCA’s (excluindo polimorfismos), correspondendo a 42-45 alelos mutados. No entanto, apenas 8,3% dos casos continham mutações comprovadamente patogénicas, representando a mutação fundadora portuguesa 40% das mesmas. Comparativamente a outros estudos na população portuguesa, a prevalência de mutações patogénicas no nosso estudo foi inferior, com uma sobrerepresentação da mutação fundadora, o que poderá ser explicado por diferentes critérios de referenciação e/ou composição das amostras estudadas. O algoritmo BRCAPro® revelou-se útil como instrumento de cálculo de probabilidade de mutação patogénica nos genes BRCA1 e BRCA2, embora não permita substituir o critério médico na de seleção de pacientes para estudo genético destes genes.
Breast cancer is the type most common malignant neoplasm in women worldwide. In most cases arises sporadically, but it is estimated that about 7% have a hereditary origin, related to the genetic inheritance of some pathogenic mutation in susceptibility genes for this cancer. The most frequent cause of hereditary breast/ovarian cancer is an alteration in one of the two BRCA genes, the BRCA1 and BRCA2. Germline mutations in these two genes are responsible for about 50% of cases with hereditary breast and ovarian cancer. Currently, few data is available referring to the mutation profile in the Portuguese population, besides the identification of a founder mutation in the BRCA2 gene. It was intended with this study to characterize, in a sample constituted of patients with suspicion of hereditary breast/cancer, mutations of these two genes, evaluating the different types of mutations found, the prevalence of pathogenic mutations, particularly the Portuguese founder mutation. It was also intended to test the algorithm BRCAPro®, in the aid of recruitment of patients for genetic testing with suspected HBOC. Of the 121 cases studied by DGGE/direct sequencing/MLPA, we detected 42 cases (34,7%) containing alterations in one of the BRCA genes (excluding polymorphisms), corresponding to 42-45 mutated alleles. After analysis, only 8.3% of the cases had deleterious mutations, with the founder Portuguese mutation representing 40% of those. Comparing to other studies in the Portuguese population, the prevalence of pathogenic mutations found in this study was smaller, with an overexpression of the Portuguese founder mutation. That can be explained by the use of different clinical criteria in the recruitment of patients for genetic study and/or differences in the composition of the cohort of cases. The BRCAPro® algorithm as proved useful as a tool for the calculation of mutation probability in the BRCA1 and BRCA2 genes, although it doesn’t allow to substitute the medical criteria in the selection of patients for genetic study in this two genes.
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Thompson, Deborah Jane. "Cancer risks in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620568.
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Al, Abo Muthana. "Compensatory functions and interdependency of the DNA-binding domain of BRCA2 with the BRCA1-PALB2-BRCA2 complex." Kyoto University, 2014. http://hdl.handle.net/2433/188662.
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Hadjisavvas, Andreas. "BRCA1, BRCA2 molecular study of Cypriot breast cancer patients." Thesis, Brunel University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250211.
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Ginolhac, Sophie. "Facteurs génétiques modificateurs du risque de cancer du sein et de l'ovaire chez les femmes porteuses d'une mutation constitutionnelle des gènes BRCA1 ou BRCA 2." Lyon 1, 2003. http://www.theses.fr/2003LYO1T149.
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La 4e de couverture indique : "Les porteuses de mutations germinales des gènes BRCA1 et BRCA2 ont un risque élevé de développer un cancer du sein et également de l'ovaire. Cependant, il existe une grande variabilité du risque tumoral chez ces porteuses qui dépend du gène en cause, de différents facteurs environnementaux, physiologiques et hormonaux mais probablement aussi de facteurs génétiques. Notre étude a eu pour objectif d'identifier certains de ces facteurs génétiques modificateurs afin d'améliorer l'évaluation du risque cancéreux individuel des porteuses de mutation BRCA et donc leur prise en charge et leur traitement. 1010 femmes porteuses de mutation BRCA ont été incluses dans cette étude. Les gènes candidats ont été sélectionnés en fonction d'hypothèses biologiques et génétiques suggérant leur implication dans la modification du risque de cancer. Dans un premier temps, nous avons analysé, chez les porteuses de mutation BRCA1, l'effet de différents variants de l'allèle sauvage de BRCA1 en considérant que ces allèles pouvaient influencer l'effet de l'allèle muté. Dans un second temps, nous nous sommes intéressés à deux gènes: un codant pour un partenaire de BRCA1 impliqué dans le métabolisme des acides gras, l'acétyl-CoA carboxylase a et un codant pour la 17ß-hydroxystéroi͏̈de déshydrogénase intervenant dans le métabolisme des œstrogènes. L'effet cis de ces gènes, situés au locus BRCA1, pourrait être à l'origine de l'association de certaines mutations BRCA1 avec un risque tumoral élevé, qu'aucune donnée biologique ne permet d'expliquer actuellement. BRCA1 et BRCA2 participent à des voies communes de signalisation cellulaire et la présence de variants sur un de ces deux gènes pourraient influencer l'activité de l'autre. Nous avons étudié l'effet de variants de BRCA2 chez les porteuses de mutation BRCA1. Enfin, le choix des deux derniers gènes, RAD51 et AIB1 s'est basé sur l'interaction de leur fonction avec celle de BRCA1 et BRCA2. En conclusion, le variant Gly1038 sur l'allèle sauvage de BRCA1 serait associé à une augmentation du risque de cancer de l'ovaire chez les porteuses de mutation BRCA1 (HR=1,5; IC 95%=1,03-2,19) et pourrait expliquer la majorité de la variabilité du risque ovarien chez ces femmes. Aucun effet significatif n'a été mis en évidence pour les autres gènes analysés. "
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Arver, Brita. "Hereditary breast/ovarian cancer : implementation of BRCA1 & BRCA2 testing /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4799-6/.
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Mitra, Anita. "Prostate cancer and targeted screening in BRCA1 and BRCA2 Mutation carriers." Thesis, Institute of Cancer Research (University Of London), 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.509785.
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Renwick, A. A. "Familial breast cancer : are BRCA1 and BRCA2 mutations present in Scotland?" Thesis, University of Aberdeen, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.593342.
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Zimmer, Jutta. "Roles of BRCA1 and BRCA2 in DNA replication and genome stability." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:3f595c71-7b99-4133-b215-dd5d5f19463f.
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Genomic instability is a hallmark of cancer. The tumour suppressors BRCA1 and BRCA2 play key roles in genome integrity by promoting homologous recombination DNA repair and replication fork stability. Deficiency in these functions has been described as the Achilles heel of BRCA-defective tumours. This provides an important rationale for further exploring the roles of BRCA1 and BRCA2 in DNA replication and genome stability. G-quadruplexes, alternative DNA structures formed by guanine-rich single- stranded DNA, represent natural replication fork barriers. This study demonstrates that treatment with the G-quadruplex-stabilising compound pyridostatin selectively decreases viability of BRCA1- and BRCA2-deficient cells by inducing replication stress and DNA damage. Furthermore, this work identifies a new role of the Fanconi anaemia protein FANCD2 in limiting replication fork progression and genomic instability in human cancer cells lacking BRCA2. This function of FANCD2 is vital for BRCA2-deficient cell survival and affects treatment responses. Finally, the data presented here reveal a synthetic lethal interaction between MRE11 nuclease and BRCA2. Characterisation of a novel chemical MRE11 nuclease inhibitor with activity on 2D and 3D cell culture models for BRCA2 deficiency highlights the clinical relevance for the use of MRE11 inhibitors for targeting BRCA2-deficient tumours. In summary, this report describes novel roles of BRCA1 and BRCA2 relevant for selective targeting of BRCA-deficient tumour cells.
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Schofield, Andrew C. "Molecular genetics of breast and ovarian cancer." Thesis, University of Aberdeen, 1998. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU100481.
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Breast cancer is one of the most common malignancies in women, affecting one in twelve. Ovarian cancer, although not as frequent, is the leading cause of death from gynaecological cancer. Inherited predisposition to breast and ovarian cancer, which accounts for approximately 5 to 10% of these cancers, has been associated with mutations in the BRCA1 and BRCA2 genes. Mutations in both of these genes increase the lifetime risk of developing breast cancer by approximately 80%. BRCA1 confers a greater predisposition of ovarian cancer than BRCA2, however, BRCA2 has been associated with male breast cancer. Polymorphisms linked to BRCA1 and BRCA2 were studied to examine whether either of these genes were linked to breast and breast/ovarian cancer families. None of the five cancer families studied generated statistically significant lod scores although the segregation of a common haplotype with the disease in each family and positive lod scores did suggest that four of these families were linked to BRCA1 and the other to BRCA2. Subsequent mutation studies identified three germline mutations, thus confirming the initial linkage results in three families. A total of four deletions and six polymorphisms were identified in BRCA1 and BRCA2 from forty-eight breast and breast/ovarian cancer families, using SSCP analysis and PTT. The functional effect of these mutations is unclear although variable expression of the cancer phenotype suggests that other genes and environmental factors play an important role in the development of breast and ovarian cancer. Evidence of an abnormal protein was detected by the presence of clonal LOH of the normal allele, using BRCA1 antibodies in familial breast and ovarian tumours. In addition, BRCA1 immunostaining was negative in a greater proportion of benign tumours compared to malignant ovarian tumours. The loss of BRCA1 does not lead to malignancy, suggesting that BRCA1 may have another role in benign ovarian epithelial tumours.
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Becker, Alexandra Angela [Verfasser]. "Funktionelle Analyse unklassifizierter Varianten der Gene BRCA1 und BRCA2 / Alexandra Angela Becker." Köln : Deutsche Zentralbibliothek für Medizin, 2013. http://d-nb.info/1045459046/34.
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Nelson, Andrew Cook. "Molecular regulation of the breast and ovarian tumor suppressors BRCA1 and BRCA2 /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2007.
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Thesis (Ph.D. in Experimental Pathology, Program in Cancer Biology) -- University of Colorado Denver, 2007.Typescript. Includes bibliographical references (leaves 144-158). Free to UCD affiliates. Online version available via ProQuest Digital Dissertations;
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RAMALHO, Eduardo Augusto Vasconcelos de Freitas. "Avaliação de alterações nos genes p53, BRCA1 em Carcinoma Ductal Invasivo de Mama (CDI)." Universidade Federal de Pernambuco, 2012. https://repositorio.ufpe.br/handle/123456789/10853.
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CAPES
Sabe-se que os genes p53, BRCA1 e BRCA2 apresentam a característica em comum de serem considerados supressores tumorais. Eventos genéticos e epigenéticos são frequentes ao longo de todo o genoma humano. Mutações somáticas são passíveis de ocorrer nas regiões codificantes de genes específicos, alterando sua sequência e gerando proteínas mutantes, as quais resultam numa alteração de sua capacidade funcional ou até mesmo a perda dela. Este trabalho objetivou avaliar alterações epigenéticas nas regiões promotoras dos genes BRCA1 e BRCA2 através da técnica de PCR para Metilação Específica (MSP) e correlacionar mutações pontuais nos exons 4 e 7 do gene p53 como fator de risco para o carcinoma ductal invasivo (CDI) de mama na população feminina do Recife atendida no Hospital das Clínicas (HCUFPE). Cinquenta biópsias de mama diagnosticadas com CDI fixadas em formalina e embebidas em parafina foram obtidas do Setor de Anatomia Patológica do HC-PE e cinco amostras de tecido mamário de mulheres submetidas à mastectomia estética foram usadas como controle normal. O DNA das amostras foram extraídos e, então, amplificados por MSP. Para avaliação do perfil mutacional utilizou-se a técnica de PCR-RFLP (Restriction Fragment Length Polymorphism) com as enzimas BstUI e HaeIII para verificação dos polimorfismos nos exons 4 e 7, respectivamente. A frequência no padrão de metilação para o gene BRCA2 foi de 46,9% enquanto a frequência de mutações pontuais nos códons 72 (exon 4) e 249 (exon 7) do gene p53 foram de 91,8% e 8,1%, respectivamente. Para o BRCA1 os resultados obtidos foram inconsistentes quanto ao seu padrão de metilação. Os resultados mostraram que o polimorfismo do códon 72 apresentou-se estatisticamente significante para metástase podendo ser utilizado como um potencial biomarcador auxiliar no diagnóstico de carcinoma ductal invasivo de mama humana.
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Alwahiby, Suliman Abdullah M. "Molecular cytogenetic analysis of telomeres in cells with mutant BRCA1 and BRCA2 genes." Thesis, Brunel University, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425381.
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Goveia, Rebeca Mota. "Análise de deleção/ duplicação nos genes BRCA1 e BRCA2 em pacientes de Goiás-Brasil com suspeita da síndrome do câncer de mama e ovário hereditário." Universidade Federal de Goiás, 2018. http://repositorio.bc.ufg.br/tede/handle/tede/8723.
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Introduction: Breast cancer is the second most common cancer in the world, and the most common among women, only 5% to 10% are hereditary and half of them are caused by hereditary breast and ovarian cancer (HBOC) , caused by variations in the BRCA1 and BRCA2 genes. Objectives: The present study aimed to identify the prevalence of deletions and duplications in BRCA1 and BRCA2 genes in breast cancer patients in Goiás, Brazil. Materials and methods: We evaluated 46 breast cancer patients who met National Comprehensive Cancer Network (NCCN) criteria for HBOC syndrome screening. A 4 ml blood sample was collected for DNA extraction using commercial kit and the MLPA (Multiplex Ligation Dependent Probe Amplification) technique was performed using the SALSA MLPA P002 BRCA1 and SALSA MLPA P045 BRCA2 / CHECK2 kits. Results and discussion: The majority of the patients were female (97.83%) and the mean age of the patients was 37.52 years. In this group, 43.47% of the patients were younger than 35 years at the time of diagnosis and 35% of them were diagnosed with triple negative tumors. The most common molecular subtype was luminal A (46.2%) followed by triple negative tumors (28.20%). No patient was found with rearrangements in BRCA1. In the BRCA2 gene, one patient (2.12%) presented a false positive result for the heterozygous deletion of exon 27, which may have been caused by the presence of a small change in the probe binding region. Conclusion: This was the first study performed to analyze large deletions and duplications in patients from the central-western region of Brazil. We can conclude that the frequency of large deletions and duplications in the BRCA1 and BRCA2 genes in the Goian population is low.
Introdução: O câncer de mama é o segundo tipo de câncer mais freqüente no mundo, e o mais comum entre as mulheres, apenas 5% a 10% são hereditários e metade deles são causados pela síndrome do câncer de mama e ovário hereditário (HBOC), causada por variações nos genes BRCA1 e BRCA2. Objetivos: O presente estudo teve como objetivo identificar a prevalência de deleções e duplicações nos genes BRCA1 e BRCA2 em pacientes com câncer de mama no estado de Goiás, Brasil. Materiais e métodos: Avaliamos 46 pacientes com câncer de mama que atenderam aos critérios do National Comprehensive Cancer Network (NCCN) para pesquisa da síndrome HBOC. Foi coletada uma amostra de sangue de 4 ml para extração de DNA usando kit comercial e a técnica MLPA (Multiplex Ligation Dependent Probe Amplification) foi realizada usando os kits SALSA MLPA P002 BRCA1 e SALSA MLPA P045 BRCA2 / CHECK2. Resultados e discussão: A maioria dos pacientes era do sexo feminino (97.83%) e a idade média dos pacientes era de 37,52 anos. Neste grupo 43.47% dos pacientes possuíam idade inferior a 35 anos no momento do diagnóstico sendo que 35% destes foram diagnosticados com tumores triplo negativo. O subtipo molecular mais comum foi o luminal A (46.2%) seguido de tumores triplo negativos (28.20%). Nenhum paciente foi encontrado com rearranjos no gene BRCA1. No gene BRCA2, um paciente (2,12%) apresentou um resultado falso positivo para a deleção em heterozigoze do éxon 27, fato que pode ter sido ocasionado pela presença de uma pequena alteração na região de ligação da sonda. Conclusão: Este foi o primeiro estudo realizado para análise de grandes deleções e duplicações em pacientes da região centro-oeste do Brasil. Podemos concluir que a frequência de grandes deleções e duplicações nos genes BRCA1 e BRCA2 na população goiana é baixa.
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Escobar, Karina Augusto. "Determinação de mutações e polimorfismo nos genes BRCA1 e BRCA2 em pacientes com câncer de mama com indicação para teste genético." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5155/tde-05092011-152557/.
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Introdução: Mutações nos genes BRCA1 e BRCA2 são responsáveis por cerca de 50% dos casos de câncer de mama e/ou ovário hereditários. Atualmente não conhecemos o perfil de mutações destes genes na população brasileira, com exceção de mutações fundadoras que ocorrem em grupos étnicos específicos. Objetivos: Detectar mutações e polimorfismos nos genes BRCA1 e BRCA2 em 73 pacientes com câncer de mama selecionadas para o teste genético. Casuística e métodos: Realizamos o sequenciamento direto e o teste de MLPA para os genes BRCA1 e BRCA2 em 73 indivíduos, sendo 63 pacientes com câncer de mama com risco maior ou igual a 10% de acordo com os critérios de Frank, Evans e BRCAPRO, dois pacientes com câncer de ovário e oito indivíduos saudáveis com forte histórico familiar de câncer ligado a mutações em BRCA1 e/ou BRCA2. Resultados: Encontramos 60 mutações no gene BRCA1: 13 alterações missense (incluindo a deletéria R71G), sete mutações sinônimas, uma mutação frameshift (a deletéria 5382insC), uma mutação nonsense (a deletéria R1751X), uma deleção in frame, uma alteração 3UTR e 36 variantes intrônicas. Em BRCA2 encontramos 57 mutações, entre as quais 26 mutações missense, uma alteração 5UTR, 11 mutações sinônimas, 14 variantes intrônicas, duas mutações nonsense (as deletérias R2318X e R3128X) e três mutações frameshift deletérias (5844del5, 6633del5 e 6610insTT). Nenhuma mutação foi detectada pelo teste de MLPA. Discussão e considerações finais: Nove de 73 indivíduos estudados são portadores de mutações deletérias, sendo que a mutação fundadora Ashkenazi 5382insC foi encontrada em duas pacientes não aparentadas e que outro grupo de pesquisa já reportou sua alta frequência numa população paulistana. As alterações de significado clínico desconhecido foram encontradas em toda a extensão dos genes BRCA1 e BRCA2 e são inúmeras. Algumas apareceram em somente uma paciente, o que nos leva a pensar que talvez uma ou algumas destas mutações tenham algum efeito patogênico, como a mutação 6610insTT, que gera uma proteína incompleta e foi encontrada em três gerações de uma família. A técnica de MLPA não detectou grandes rearranjos em ambos os genes, mostrando que este tipo de alteração genética não é freqüente em nossa coorte e que talvez esta seja uma característica mais prevalente em populações menos miscigenadas. Salientamos, portanto, a importância de ampliar este estudo e de estimular pesquisas futuras, visando um aconselhamento genético eficiente, com a diminuição do número de casos inconclusivos gerados pelas variantes de significado indeterminado e o acompanhamento clínico das famíliasIntroduction: Mutation in BRCA1 and BRCA2 genes are responsible for more than 50% of hereditarian breast and ovarian cancer cases. Nowadays, we still dont know the Brazilian mutation profile for these genes, except when founder mutations occur in specific ethnic groups. Objetives: Detection of mutation and polymorphisms in BRCA1 and BRCA2 genes in 73 breast cancer patients selected for genetic testing. Casuistic and methods: we have realized direct sequencing of BRCA1 and BRCA2 in 73 patients, whose 63 have had breast cancer and showed at least 10% of risk according to Frank, Evans and BRCAPRO, two patients with ovarian cancer and eight healthy individuals of strong family history of cancer linked to mutations in BRCA1 and BRCA2. Results: We have found 60 mutations in BRCA1: 13 missense mutations (including the deleterious R71G), seven synonymous mutations, one frameshift mutation (the deleterious 5382insC), one nonsense mutation (the deleterious R1751X), one in-frame deletion, one 3UTR mutation and 36 intronic variants. In BRCA2 we have found 57 mutations: 26 missense mutations, one 5UTR mutation, 11 synonymous mutations, 14 intronic variants, two nonsense mutations (the deleterious R2318X and R3128X) and three frameshift mutations (5844del5, 6610insTT and 6633del5). No mutation was detected by MLPA technique. Discussion and final considerations: Nine of 73 studied individuals carry deleterious mutations. Among them, the Ashkenazi founder mutation 5382insC has been found in two unrelated patients and it was previously reported by another research group for its high prevalence on a population from São Paulo. Alterations of unknown clinical significance have been found all over BRCA1 and BRCA2 gene extension and are countless. Some of them are shown only in one patient, leading us to think that maybe one or a few might have a pathogenic effect, like 6610insTT, which leads to a BRCA2 incomplete protein and was shown in 3 generations of a family. MLPA technique have not detected large genomic rearrangements in both genes, showing that this kind of mutation is not frequent on our cohort and maybe this genetic alteration characterizes less miscigenated populations. So, we emphasize the importance of enlarge this study and stimulate future researches, aiming an efficient genetic counseling, decreasing inconclusive cases generated by unknown clinical significance variants, and follow up of affected families
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Lecarpentier, Julie. "Étude des facteurs modificateurs du risque de cancer du sein des femmes à risque génétique élevé." Phd thesis, Université Paris Sud - Paris XI, 2012. http://tel.archives-ouvertes.fr/tel-00910388.
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Les femmes porteuses d'une mutation du gène BRCA1 ou BRCA2 ont un risque de cancer du sein (CS) très élevé dont les estimations varient beaucoup d'une étude à l'autre. L'objectif principal de cette étude est de mieux estimer le risque de CS associé aux gènes BRCA1/2 en tenant compte de la variabilité des mutations et des facteurs " environnementaux/style de vie " et de leur éventuelle interaction. Nous avons analysé les données de la cohorte GENEPSO composée de femmes porteuses d'une mutation du gène BRCA1 ou BRCA2 à l'aide d'un modèle de Cox pondéré. L'analyse des facteurs de risque gynéco-obstétrique et de " style de vie " a permis de mettre en évidence une association entre le risque de CS et les radiations ionisantes, la consommation de tabac, l'indice de masse corporelle, l'âge aux premières règles, la parité, les interruptions de grossesse, la contraception orale, la ménopause et les traitements hormonaux substitutifs. Cette étude confirme l'existence d'une zone centrale à moindre risque de CS dans les gènes BRCA1/2 et de décrire une nouvelle région à haut risque située dans la région 3' du gène BRCA2. Cette étude montre également une interaction entre la localisation des mutations et la parité ainsi que la ménopause. Cette étude montre l'importance de la prise en compte simultanée des facteurs de risque " non génétiques " et de la localisation des mutations dans les gènes BRCA1/2 dans l'estimation des risques de CS. Si nos résultats sont confirmés sur de plus larges données, cette étude pourrait aider ces femmes dans le choix du type de stratégie de surveillance ou de prévention le mieux adapté à leur situation.
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Curtit, Elsa. "Rôle des déterminants génétiques constitutionnels dans le cancer du sein." Thesis, Bourgogne Franche-Comté, 2017. http://www.theses.fr/2017UBFCE017.
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Comme pour toute pathologie, la survenue d’un cancer du sein est conditionnée par l’association de facteurs génétiques héréditaires et de facteurs environnementaux acquis. Les facteurs génétiques connus comprennent à la fois des mutations pathogènes rares induisant un risque élevé de développer un cancer du sein et des variants génétiques fréquents (single nucleotides polymorphisms - SNP) responsables d’une faible augmentation du risque. L’ensemble des résultats de ce manuscrit plaide en faveur d’un impact majeur des facteurs génétiques constitutionnels à la fois en ce qui concerne le risque de développer un cancer du sein mais aussi en tant que déterminants du type de cancer du sein, voire du pronostic. La survenue d’un cancer du sein exprimant les récepteurs aux estrogènes et HER2-négatif est associée à 4 SNP introniques du gène FGFR2. Le pronostic des cancers du sein n’est pas associé aux variants impliquant un risque de développer un cancer. Quatre SNP indépendants sont associés à une évolution péjorative des cancers du sein triple-négatifs.La séquence d’événements qui mène du génome du patient à celui de la tumeur reste complexe, mal connue et probablement spécifique à chaque cancer comme l’illustrent les deux cas liés à des mutations germinales BRCA1/2 étudiés en deuxième partie de manuscrit. Le dernier travail permet de faire un lien vers la pratique clinique et rapporte une prévalence des mutations germinales BRCA1/2 d’environ 3% dans une cohorte prospective de patientes présentant un cancer du sein métastatique, non sélectionnées en fonction de leur âge, type de cancer ou antécédents familiauxAs in any disease, the development of breast cancer depends on genetic hereditary factors and environmental acquired factors. Genetic factors of breast cancer involve rare pathogenic mutations with high risk of developing a breast cancer and frequent genetic variants (single nucleotides polymorphisms - SNP) responsible for a low increase in the risk of cancer. The works presented in this manuscript show that germline genetic factors strongly determine the risk of developing a breast cancer, but also the subtype of breast cancer and may impact the prognosis. Estrogen-positive, HER2-negative breast cancer development is associated with 4 intronic SNP in FGFR2 gene. Breast cancer prognosis is not associated with variants conferring a risk of developing a breast cancer. Four independent SNP are associated with bad outcomes in triple-negative breast cancers.The way that leads from patient genome to tumor genome is complex, mainly unknown and probably different for each case, as illustrated in the two case reports involving BRCA1/2 germline mutations described in the second part of the manuscript. Last work is a clinical research trial and shows a prevalence of BRCA1/2 mutations of around 3%, in a prospective cohort with metastatic breast cancer patients unselected on their age, cancer type or family history
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Sandberg, Anna, and Mikaela Sjögander. "Kvinnors upplevelse av att leva med ärftlig risk för bröst- och äggstockscancer : Att vänta på en cancerdiagnos." Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-36728.
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Det föreligger en ökad risk för att utveckla bröst- och äggstockscancer om kvinnan bär på mutation i BRöstCAncergen1 eller BRöstCAncergen2. Kvinnan ställs inför svåra beslut som kommer att påverka hälsan över tid. Syftet var att genom en allmänlitteraturstudie undersöka kvinnors upplevelse av att leva med den ärftliga mutationen i BRöstCAncergen1 eller BRöstCAncergen2. Efter en systematisk litteratursökning framkom 15 resultatartiklar, i dessa identifierades två kategorier med tillhörande underkategorier, Osäkerhet: rädsla för cancer och förändrad kroppsuppfattning samt Hanterbarhet: tankar om framtiden, stöd och acceptans. Genom att bära på genmutationen upplever kvinnorna att de befinner sig i ett livshotande tillstånd där den ökade risken för cancer skapar osäkerhet. Besluten är komplexa vilket ökar informationsbehovet hos kvinnorna, det framkom att informationen ansågs bristfällig. I denna process är det viktigt att sjuksköterskan ser kvinnan bakom genmutationen och tillämpar personcentrerad omvårdnad. Vidare forskning kring kvinnors upplevelse behövs, då behoven inte ansågs vara uppfyllda. Detta skulle ge förutsättningar för sjuksköterskor att erbjuda en mer personcentrerad omvårdnad.There is an increased risk of developing breast- or ovarian cancer if a woman carries the deleterious mutation in BReastCAncer gene1 or BReastCAncer gene2. The woman faces severe decisions that will affect her health over time. The aim of this literature review was to investigate how women experience living with a genetic mutation in BReastCAncer gene1 or BReastCAncer gene2. After a systematic literature search, 15 results were found, in which two categories were identified with associated subcategories, uncertainty: fear of cancer and changed body perception, and manageability: thoughts about the future, support and acceptance. By carrying the genetic mutation women find themselves in a life-threatening condition where their increased risk of cancer creates uncertainty. The decisions are complex, which increases the information needs of the women. It was found that the information was considered to be insufficient. In this process it of great importance that the nurse sees the woman behind the genetic mutation and applies person-centered nursing. Further research on women's experience is required, since the needs were not considered to be met. This would provide better conditions for nurses to offer a person-centered care.
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Liu, Wei, and 劉蔚. "Genetic analysis of the BRCA1 and BRCA2 genes in breast cancer of HongKong Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39558848.
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Kuchenbaecker, Karoline Bernhardine Elisabeth Karla Ursula. "Genetic modifiers of breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708731.
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Mohr, Christina [Verfasser], and Klaus [Akademischer Betreuer] Friese. "BRCA1- und BRCA2-Mutationsträger : eine vergleichende Untersuchung beider Gruppen / Christina Mohr. Betreuer: Klaus Friese." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/1058076752/34.
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Mohr, Christina Babette [Verfasser], and Klaus [Akademischer Betreuer] Friese. "BRCA1- und BRCA2-Mutationsträger : eine vergleichende Untersuchung beider Gruppen / Christina Mohr. Betreuer: Klaus Friese." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://nbn-resolving.de/urn:nbn:de:bvb:19-172139.
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Oh, Yeum Mok, and Yeum Mok Oh. "BRCA1 and BRCA2 Gene Mutations in Colorectal Cancer: A Systematic Review and Meta-Analysis." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625685.
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Background: The relevant risks associated with BRCA1 and BRCA2 mutation in breast and ovarian cancer have been well studied. BRCA mutations have also been found to be associated with other cancers, including colorectal cancer, but with conflicting results.
Aims: We performed a systematic review and meta-analysis to identify, characterize, and review published studies evaluating BRCA mutation carriers with colorectal cancer, and to quantify the risk of colorectal cancer overall and in subgroups of BRCA mutation carriers.
Methods: Eligible studies were retrieved through systematic review using multiple databases. Unadjusted odds ratios were used to derive pooled estimates of colorectal cancer risk overall and in subgroups defined by mutation type, comparison group, and study design.
Results: A total of 18 studies were included in the systematic review, of which 14 were also used in the meta-analysis: seven cohort studies comparing to the general population, five case-control studies, four cohort studies involving pedigree analysis, and two kin-cohort studies. Meta-analysis not differentiating between BRCA1 and BRCA2, revealed a statistically significant increased risk of colorectal cancer in BRCA mutation carriers in a fixed-effects model (OR=1.22, 95%CI=1.01-1.48, p=0.041), but not in a random-effects model (OR=1.20, 95%CI=0.96-1.50, p=0.111). Analyses stratified by study design and comparator found no association between BRCA mutation and colorectal cancer risk. In subgroup meta-analyses by BRCA type, BRCA1 mutation was associated with increased risk of colorectal cancer (OR=1.48, 95%CI=1.13-1.94, p=0.005), but not in BRCA2 mutation.
Conclusion: Systematic review and meta-analysis point at potential 1.22-fold greater risk of colorectal cancer in BRCA mutation carriers, attributable largely to a 1.48-fold greater risk of colorectal cancer in BRCA1 mutation carriers, regardless of age.
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Pagliaretta, Silvia. "Tumori eredo-familiari di mammella ed ovaio: analisi mutazionale dei geni BRCA1 e BRCA2." Doctoral thesis, Università Politecnica delle Marche, 2013. http://hdl.handle.net/11566/242540.
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Sulla base delle informazioni ad oggi disponibili, si stima che circa il 5-10% dei carcinomi mammari ed ovarici insorga su base eredo-familiare.
Nel corso degli anni ‘90, sono stati identificati due geni oncosoppressori che, se mutati, sono responsabili della comparsa sia di tumori mammari che ovarici.
Questi geni sono stati chiamati BReast CAncer susceptibility gene 1 e 2 ovvero BRCA1 e BRCA2.
Le mutazioni di questi geni si trasmettono con modalità di tipo autosomico dominante.
Da un punto di vista clinico, l’importanza nel rilevare mutazioni in questi geni, risiede nel fatto che i soggetti, portatori di mutazioni predisponenti, hanno un elevato rischio di ammalarsi di tumore.
Il nostro studio si è proposto di valutare l’incidenza delle mutazioni germinali di BRCA1 e BRCA2 sia nei pazienti con neoplasia della mammella e/o dell’ovaio sia nei parenti dei pazienti portatori.
L’identificazione dei soggetti candidati allo studio, si è basata sulle caratteristiche dell’anamnesi familiare e sui risultati forniti da programmi informatici quali BRCAPRO e Manchester Scoring System.
Lo studio della sequenza nucleotidica di tutti gli esoni dei geni BRCA1 e BRCA2 è stato effettuato tramite sequenziamento diretto; mentre lo studio di grandi riarrangiamenti genici è stato effettuato grazie alla tecnica MLPA (Multiplex Ligation Probe Amplification). Ad oggi, sono stati selezionati 741 pazienti, di cui 692 donne e 49 uomini, con un’età mediana d’insorgenza della malattia di 44 anni (range 16-84).
L’analisi mutazionale di BRCA1 e BRCA2 è stata completata su 725 pazienti.
In totale sono state identificate 191 mutazioni, di cui 52 in BRCA1:
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- 19 frameshift, 17 missenso 3 nonsenso, 2 mutazioni nel sito di splicing, 7 varianti introniche e 4 riarrangiamenti genici;
e 57 in BRCA2:
- 21 frameshift, 4 nonsenso, 20 missenso, 5 silenti, 5 varianti introniche e 2 mutazioni nel sito di splicing.
Lo studio è stato esteso poi a 256 soggetti sani, parenti dei pazienti analizzati, dei quali 188 donne e 68 uomini. L’analisi è stata completata su 181 soggetti. Sono state trovate, in totale 77 mutazioni, di cui 22 in BRCA1 e 17 in BRCA2.
I dati raccolti finora confermano la possibilità di rilevare mutazioni predisponenti allo sviluppo di carcinomi mammari ed ovarici in soggetti ad alto rischio. I soggetti identificati potranno quindi sottoporsi a strategie preventive.Approximately up to 5 %-10% of all cases of breast and ovarian cancers exhibit a familial pattern of incidence. During the 90s, reserchers discovered that this familial predisposition was caused by germline mutations in two tumor suppressor genes called BReast CAncer susceptibility gene 1 and 2, or BRCA1 and BRCA2. Mutations in these genes are associated with a dominant autosomic genetic predisposition at high penetrance. It is now widely accepted that individuals, that inherit a germline mutation in BRCA1 or BRCA2, have a significantly increased lifetime risk of developing breast or/and ovarian cancer. Our study aims to evaluate the presence of germline mutations in BRCA1 and BRCA2 both in patients with breast and / or ovarian cancer both in their relatives. In the study, candidates identification was based on familial history and on the results provided by computer programs such as BRCAPRO and Manchester Scoring System. The approach used was based on BRCA1 and BRCA2 sequence screening by direct sequencing methods, while the study of large gene rearrangements was carried out by MLPA (Multiplex Ligation Probe Amplification). To date, 741 patients were selected, 692 were women and 49 were men, with a mean age of onset disease of 44 years (range 16-84). BRCA1 and BRCA2 mutational analysis was completed on 725 patients. 191 mutations have been totally identified, 52 of which in BRCA1: - 19 frameshift, 17 missense, 3 nonsense, 2 splice site mutations, 7 intronic variants and 4 gene rearrangements; and 57 in BRCA2: II - 21 frameshift, 4 nonsense, 20 missense, 5 silent, intronic variants 5 and 2 in the splice site. Then the study was extended to 256 healthy subjects, relatives of analyzed patients. The analysis was completed on 181 subjects. A total of 77 mutations have been found: 22 in BRCA1 and 17 in BRCA2. The collected data confirm the possibility of detect predisposing mutations in high risk patients. Individuals carrying the mutation, will benefit from a prevention program.
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Huusko, P. (Pia). "Predisposing genes in hereditary breast and ovarian cancer." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514254422.
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Abstract
In the present study, mutations in BRCA1 and BRCA2, the two major genes predisposing individuals to hereditary breast and ovarian cancer, were screened in Finnish and Turkish cancer families. Germline BRCA1 mutations were found in 7% (6/88) and BRCA2 mutations in 6% (5/88) of the Finnish families studied in Oulu. Two distinct BRCA1 (3745delT, 4216nt-2A→G) and three BRCA2 (999delTCAAA, 6503delTT, 9346nt-2A→G) mutations were identified, all of which are recurrently found in Finland. In the 15 Turkish cancer families studied, 5382insC and 5622C→T were detected in BRCA1, and 3414delTCAG in BRCA2. The novel 3414del4 mutation was found in a family with a case of male breast cancer.
In order to determine their ages and origin, 9 recurrent Finnish BRCA1 and BRCA2 mutations were studied further as regards haplotype conservation. Common origins approximately 18–80 generations (400–1600 years) ago were demonstrated for all studied mutations by partial haplotype sharing. The majority of the mutations showed geographical clustering, supporting the theory of regional founder effects. Four of the nine mutations are unique for Finland, whereas five have also been seen elsewhere. Mutations in the 5' end of BRCA1 tend to predispose individuals to ovarian cancer and those found in the 3' end to breast cancer. The age of ovarian cancer onset was significantly lower for BRCA1 (51 years) than for BRCA2 mutation carriers (61 years).
Germline TP53 mutations were sought in the Finnish breast cancer families found to be negative after BRCA1 and BRCA2 screening but who exhibited some phenotypic features of the Li-Fraumeni syndrome. The Asn235Ser was found in a family displaying Li-Fraumeni syndrome phenotype and the Tyr220Cys in a family with a milder Li-Fraumeni-like phenotype. The nature of both mutations as cancer-predisposing alterations was supported by means of loss of heterozygosity (LOH) and p53 immunohistochemistry studies.
Regional clustering of BRCA1 and BRCA2 founder mutations enables targeted genetic tests including especially those mutations characteristic of the birthplace of each patient. Additional genes are likely to explain a large proportion of the inherited susceptibility to breast cancer in particular. Germline TP53 mutations are expected to be found in the breast cancer families with other clinical features seen in the Li-Fraumeni syndrome.
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KREKEL, CHRISTINE ELIZABETH. "THE EFFECT OF CLINICAL PRACTICE LOCATION ON PHYSICIAN REFERRAL PRACTICES AND ATTITUDES FOR HEREDITARY BREAST CANCER." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1025639885.
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Vallée, Maxime. "Design of an internet tool to assess variants of uncertain clinical significance in high-risk breast cancer genes BRCA1 and BRCA2." Thesis, Lyon 1, 2012. http://www.theses.fr/2012LYO10193.
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Des mutations germinales dans les gènes majeurs du cancer du sein BRCA1 et BRCA2 sont responsables de la maladie chez les patientes cumulant histoire familiale et apparition du cancer à un jeune âge. Environ 15% des femmes testées pour les mutations de BRCA1 et BRCA2 sont porteuses d’une mutation clairement pathogénique dans un des deux gènes. Cependant, des variants de signification clinique incertaine (VUS pour "variants of uncertain clinical significance") sont détectés dans 5% à 15% des cas testés. Pour évaluer la signification clinique des VUS, le Breast cancer Infomation Core (BIC) a développé un modèle Bayésien intégré, basé sur des données d'observations. Align-GVGD, un algorithme d'évaluation des substitutions faux-sens basé sur l'histoire évolutionnaire de la protéine fournit la probabilité a priori du modèle. Cependant, lorsqu'une substitution silencieuse est détectée, elle sera jugée comme neutre par l'évaluation in silico. Pourtant, une mutation au niveau de l'ARNm peut perturber la mécanique de l'épissage, par deux moyens principaux: endommagement des sites sauvages d'épissage, ou la création de sites exoniques d'épissage de novo. Notre premier objectif est de rassembler les variants déjà publiés, de les re-analyser avec le modèle d'évaluation intégrée. Nous voulons extraire le plus de variants publiés premièrement sous le statut de VUS vers un statut plus informatif, avec des recommandations cliniques associées. Par la suite, nous voulons étendre le modèle pour évaluer plus de variants, plus précisément, en intégrant l'évaluation des perturbations de l'épissage. Finalement, nous serons capable de présenter et de fournir ces informations librement sur Internet, via une interface web populaire, une Leiden Open Variation Database (LOVD)Germline mutations in major breast cancer susceptibility genes BRCA1 and BRCA2 are responsible for the disease for high-risk patients (patients with early onset and familial history of breast cancer). Around 15% of screened women for BRCA1 and BRCA2 mutations carry one clearly pathogenic mutation in one of those two genes. However, variants of uncertain clinical significance (VUS) are detected in 5% to 15% of tested patients. To assess clinical significance of VUS, the Breast cancer Information Core (BIC) has developed a Bayesian integrated model, based on observational data. Align-GVGD, an algorithm evaluating damage of missense substitutions based on the evolutionary history of the protein, is providing the prior probability of the model. However, whenever a silent substitution arise, it is firstly treated as neutral by the in silico assessment. Indeed, a mutation at the mRNA level can disrupt the splicing machinery by two main means: damaging wild-type splice sites, or creating exonic de novo splice sites. Our first goal is to be a central repository of already published variants, to re-analyze them using the unified integrated evaluation model. We would like to extract the most variants from the original published status of VUS to a more informative status, with associated clinical recommendations. Then we would like to extend the model to be able to evaluate more variants more precisely by adding the splicing damages assessment in the integrated evaluation. In the end, we will be able to provide these informations freely on Internet, via a widely use web interface, a Leiden Open Variation Database (LOVD)
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Betz, Beate. "Molekulare Untersuchung der Tumorsuppressorgene BRCA1 und BRCA2 bei familiären und sporadischen Mamma- und, oder Ovarialkarzinomen." [S.l.] : [s.n.], 2000. http://deposit.ddb.de/cgi-bin/dokserv?idn=962711322.
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Liu, Wei. "Genetic analysis of the BRCA1 and BRCA2 genes in breast cancer of Hong Kong Chinese." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/HKUTO/record/B39558848.
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Abdolahad, Sandy, and Frida Bergerling. "När livet händer - Unga kvinnors upplevelser att leva med genmutation BRCA1 eller BRCA2 : En litteraturstudie." Thesis, Högskolan i Borås, Akademin för vård, arbetsliv och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hb:diva-14642.
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Det finns flera olika typer av en bröstcancergen, två av dessa cancergener är BRCA 1 och 2. Dessa cancergener är ärftliga och risken för att utveckla bröst eller livmodercancer blir upp till 80 % när man är bärare redan vid 30 års ålder. Syftet är att beskriva unga kvinnors upplevelser av att leva med genmutation BRCA 1 och/eller BRCA 2. Studien är en litteraturstudie. Dataanalysen mynnade ut i fyra teman känsla av hotad existens, behov av stöd för att hantera information, avsaknad av samhörighet och etiskt dilemma. Resultatet lyfter fram de upplevelser och fruktan som är central för unga kvinnor när de får besked om att vara bärare av BRCA 1 eller 2 och de beslut de måste ta som kan påverka livet och framtiden. Studiens resultat är användbart för vårdpersonal och närstående som möter dessa unga kvinnor och kan ge en större förståelse för känslor och upplevelser som uppstår som bärare på en cancergen.
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Vissac-Sabatier, Cécile. "Effets des micronutriments sur l'expression des gènes oncosuppressifs BRCA1 et BRCA2 dans la glande mammaire." Clermont-Ferrand 1, 2002. http://www.theses.fr/2002CLF1PP09.
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Le cancer du sein, tumeur hormono-dépendante, est la tumeur la plus fréquente chez les femmes. Deux gènes majeurs de prédisposition héréditaire au cancer du sein et de l'ovaire ont été décrits, il s'agit des gènes BRCA1 et BRCA2. Au niveau sporadique, ce sont des variations d'expression et plus particulièrement une diminution de l'expression des ARNm qui a été retrouvée, alors que ce sont des mutations des gènes dans les cancers héréditaires. Une incidence plus faible du cancer du sein a été décrite chez les populations asiatiques qui consomment beaucoup de soja, composé riche en phytoœstrogènes. De nombreuses études ont d'ailleurs montré que ces composés peuvent inhiber la prolifération cellulaire et ainsi avoir probablement un effet protecteur vis-à-vis du cancer. L'objectif de ce travail de thèse a été d'étudier les effets des phytoœstrogènes sur les gènes suppressifs de tumeur BRCA1 et BRCA2 au niveau transcriptionnel et traductionnel. Cette étude a été réalisée in vitro dans des lignées continues mammaires tumorales et une normale après traitement par la génistéine et la daidzéine et in vitro avec un modèle de rattes femelles Wistar ayant reçu différents régimes riches en phytoœstrogènes. Nous avons réalisé la quantification des ARNm des gènes BRCA1 et BRCA2 par la méthode de RT-PCR quantitative en temps réel. Les protéines ont été étudiées par chromatographie d'affinité à haute pression pour les lignées continues et par immunohistochimie pour les glandes mammaires de rattes. Il semblerait que ces composés puissent réguler in vitro et in vivo l'expression de BRCA1 et BRCA2 au niveau ARNm, par contre au niveau protéique nous n'avons pas mis en évidence de différence d'expression. Les mécanismes et les voies d'action des phytoœstrogènes sur les oncosuppresseurs BRCA1 et BRCA2 dans le cancer du sein restent encore à élucider.
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Colin, Catherine. "Effets radiobiologiques des irradiations mammographiques sur l'épithélium mammaire : cassures double-brin de l'ADN, interactions avec les prédispositions génétiques au cancer du sein et impacts sur les modalités de dépistages." Thesis, Lyon 1, 2011. http://www.theses.fr/2011LYO10063.
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Le risque potentiel de cancer induit par les irradiations mammographiques est sujet de santé publique majeur, d’intérêt médical et scientifique. Le but de ce travail a été de quantifier les cassures double-brin (CDB) de l’ADN en conditions exactes d’irradiations mammographiques. Cette quantification a été effectuée sur des cellules épithéliales mammaires non transformées issues de biopsies échoguidées en tissu sain en utilisant l’immunofluorescence de la protéine histone H2AX phosphorylée (γH2AX), avant, 10 min et 24 h après irradiation . Deux populations de patientes ont été incluses dans l’étude 19 sans antécédent familial de cancer du sein et/ou de l’ovaire (faible risque, FR) et 11 à haut risque identifié par le généticien avec ou sans mutation (haut risque, HR). En effet, les gènes mutés suppresseurs de tumeurs (BRCA1, BRCA2, CHK2, ATM, p53, PTEN) sont également impliqués dans la signalisation et/ou réparation des CDB. Spontanément, les patientes HR ont montré significativement plus de CDB spontanées que les LR. Trois effets radiobiologiques majeurs ont été mis en évidence : 1) Un effet de la dose, plus important chez les HR ; 2) Une augmentation significative du nombre de foci γH2AX entre 10 min et 24 h après irradiation ; 3) Un effet de répétition de dose, plus marqué chez les HR. Ces constatations devraient conduire à la ré-évaluation des séquences de dépistages mammographiques dans les populations où le bénéfice en terme de mortalité n’a pas été prouvé, comme dans la tranche d’âge des 40-49 ans et dans la surveillance des patientes où sont recommandées de façon annuelle IRM et mammographie dès l’âge de 30 ans ou 35 ans, les hauts risques et les femmes aux antécédents d’irradiation thoracique dans l’enfance, l’adolescence ou jeune adulte. Une seule incidence mammographique en dépistage pourrait être préconisée en dépistage dans l’attente de travaux radiobiologiques complémentaires évaluant la carcinogenèse éventuelle des irradiations mammographiquesThe potential risk of cancer induced by radiation mammography is a major public health issue, medical and scientific interest. The purpose of this study was to quantify the double-strand break (DSB) DNA in exact terms of mammographic radiation. This quantification was performed on untransformed mammary epithelial cells from ultrasound-guided biopsies in healthy tissue using fluorescent protein phosphorylated histone H2AX (γH2AX) before, 10 min and 24 h after irradiation. Two patient populations were included in the study : 19 with no family history of breast cancer and/or ovarian cancer (low risk, LR) and 11 high-risk identified by the geneticist with or without mutation (high risk, HR). Indeed, mutated tumor suppressor genes (BRCA1, BRCA2, CHK2, ATM, p53, PTEN) are also involved in signaling and/or repair of DSBs. Spontaneously, patients showed significantly higher HR of DSBs that spontaneous LR. Three major radiobiological effects were highlighted : 1) A dose low effect, higher in HR; 2) A significant increase in the number of γH2AX foci from 10 min to 24 h after irradiation; 3) An effect of repeated doses more pronounced in HR. These findings should lead to re-evaluate mammographics procedures in screnning in populations where the benefit in term of mortality has not been proved, as women with high familial risk, in the age of group of 40-49 years, and in women treated with chest radiation for childhood, adolescent, or young adult cancer. A single mammographic view could be indicated. Further works assessing the possible carcinogenesis effects of mammographic irradiations will be necessary
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Kast, Karin, and Kerstin Rhiem. "Familial Breast Cancer: Targeted Therapy in Secondary and Tertiary Prevention." Karger, 2015. https://tud.qucosa.de/id/qucosa%3A71423.
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The introduction of an increasing number of individualized molecular targeted therapies into clinical routine mirrors their importance in modern cancer prevention and treatment. Well-known examples for targeted agents are the monoclonal antibody trastuzumab and the selective estrogen receptor modulator tamoxifen. The identification of an unaltered gene in tumor tissue in colon cancer (KRAS) is a predictor for the patient’s response to targeted therapy with a monoclonal antibody (cetuximab). Targeted therapy for hereditary breast and ovarian cancer has become a reality with the approval of olaparib for platin-sensitive late relapsed BRCA-associated ovarian cancer in December 2014. This manuscript reviews the status quo of poly-ADP-ribose polymerase inhibitors (PARPi) in the therapy of breast and ovarian cancer as well as the struggle for carboplatin as a potential standard of care for triple-negative and, in particular, BRCA-associated breast cancer. Details of the mechanism of action with information on tumor development are provided, and an outlook for further relevant research is given. The efficacy of agents against molecular targets together with the identification of an increasing number of cancer-associated genes will open the floodgates to a new era of treatment decision-making based on molecular tumor profiles. Current clinical trials involving patients with BRCA-associated cancer explore the efficacy of the molecular targeted therapeutics platinum and PARPi.
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Bodily, Weston Reed. "Integrative Analysis to Evaluate Similarity Between BRCAness Tumors and BRCA Tumors." BYU ScholarsArchive, 2017. https://scholarsarchive.byu.edu/etd/6800.
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The term "BRCAness" is used to describe breast-cancer patients who lack a germline mutation in BRCA1 or BRCA2, yet who are believed to express characteristics similar to patients who do have a germline mutation in BRCA1 or BRCA2. Although it is hypothesized that BRCAness is related to deficiency in the homologous recombination repair (HRR) pathways, relatively little is understood about what drives BRCAness or what criteria should be used to assign patients to this category. We hypothesized that patients whose tumor carries a genomic or epigenomic aberration in BRCA1 or BRCA2 should be classified under the BRCAness category and that these tumors would exhibit downstream effects (additional mutations or gene-expression changes) similar to patients with germline BRCA1/2 mutations. To better understand BRCAness, we examined similarities and differences in gene-expression profiles and somatic-mutation "signatures" among 1054 breast-cancer patients from The Cancer Genome Atlas. First, we categorized patients into three categories: those who carried a germline BRCA1/2 mutation, those whose tumor carried a genomic aberration or DNA hypermethylation in BRCA1/2 (the BRCAness group), and those who fell into neither of the first two groups. Upon evaluating the gene-expression data in context of the PAM50 subtypes, we did not observe significant similarity between the germline BRCA1/2 and BRCAness groups, but we did observe enrichment within the basal subtype, especially for BRCAness tumors with hypermethylation of BRCA1/2. However, the gene-expression profiles were fairly heterogeneous; for example, BRCA1 patients differed significantly from BRCA2 patients. In agreement with prior findings, certain mutational signatures—especially "Signature 3"—were enriched for patients with germline BRCA1/2 mutations as well as for BRCAness patients. Furthermore, we observed significant similarity between germline BRCA1/2 patients and patients with germline mutations in PALB2, RAD51B, and RAD51C, genes that are key parts of the HRR pathway and that interact with BRCA1/2. Our findings suggest that the BRCAness category does have biological and clinical relevance but that the criteria for including patients in this category should be carefully defined, potentially including BRCA1/2 hypermethylation and homozygous deletions as well as germline mutations in PALB2, RAD51B, and RAD51C.
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Cederberg, Lisa. "Felaktig alternativ splicing: Vissa mutationer i BRCA1, BRCA2, ERα och ERβ är starkt förknippade med bröstcancer." Thesis, Linköpings universitet, Institutionen för fysik, kemi och biologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-69551.
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Alternative splicing is a process that partly rejects the common definition of a gene – that one gene codes for one specific protein. By variable combination of coding regions (exons) and exclusion of non-coding regions (introns), formation of several different mRNA-transcripts, and consequently several different proteins, can derive from the same gene. Alternative splicing is an important condition for the development of complex life forms, but it is also a highly sensitive process and inaccurate splicing is the cause of approximately 15 % of mutations that cause genetic diseases. This article presents four genes, BRCA1, BRCA2, ERα and ERβ, and inaccurate splicing of these genes increases the risk of developing cancer, particularly breast cancer and ovarian cancer. Breast cancer is the second most common form of lethal cancer among women. After identifying the cancerogenic mutations, women of high-risk families can undergo genetic testing and preventive therapy can reduce the morbidity and mortality. The article also presents a short discussion around the ethical problems of genetic testing, and the social and psychological dilemmas women of high-risk families are facing when they are given the option to undergo genetic testing.
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Desjardins, Sylvie. "Analyse de gènes candidats au cancer du sein impliqués dans les interactions avec BRCA1 et BRCA2." Thesis, Université Laval, 2010. http://www.theses.ulaval.ca/2010/27415/27415.pdf.
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Keenan, Lisa A. "Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3240/.
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Shared characteristics and predictors of psychological distress are beginning to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological distress and family cancer history, personal cancer history, social support networks, and family environment. Women in this sample tended to rely more on females and relatives for support than males and friends. Social support satisfaction was not related to gender or number of relatives providing support. Thirty-four of the 36 women classified on the family environment type were from Personal Growth-Oriented families. Comparisons with normal and distressed family means revealed increased cohesion and expressiveness with decreased conflict, indicative of supportive family environments. Limitations and implications are discussed.
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Ghaffari, Guity. "The molecular pathology of BRCA1 and BRCA2 in breast cancer patients from the West of Scotland." Thesis, Connect to e-thesis, 1997. http://theses.gla.ac.uk/1006/.
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Thesis (Ph.D.) - University of Glasgow, 1997.Ph.D. thesis submitted to the Faculty of Medicine, University of Glasgow, The Duncan Guthrie Institute of Medical Genetics, 1997. Includes bibliographical references. Print version also available.
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Ferretti, Concetta. "Neoplasie ereditarie: ruolo dei geni BRCA1 e BRCA2 nei carcinomi eredo-familiari di mammella e ovaio." Doctoral thesis, Università Politecnica delle Marche, 2008. http://hdl.handle.net/11566/241928.
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Crowdes, Sophie Rose. "Factors predicting BRCA1 and BRCA2 mutation carriers’ preference for communication of risk estimates." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459773019.
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Rai, Ghadi C. "Système de connaissance expert dédié à la recherche translationnelle dans les maladies rares." Thesis, Aix-Marseille, 2016. http://www.theses.fr/2016AIXM5057/document.
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Environ 6000 à 8000 maladies rares différentes existent aujourd’hui, affectant environ 6 à 8% de la population mondiale. La grande majorité d’entre elles correspond à des maladies génétiques, pour lesquelles il n'existe pas de traitement curatif. La révolution génomique a augmenté l’espoir d’obtenir des traitements spécifiques du défaut génétique pour de nombreuses maladies. Dans ces conditions, le traitement et l’analyse des données ne sont pas triviaux et s’éloignent de la simple routine.Cette thèse rapporte la création de Saut d'exon, capables d’aider les chercheurs et les cliniciens à identifier les mutations responsables de certaines maladies et développer de nouvelles stratégies thérapeutiques. Ainsi, les systèmes Human Splicing Finder et UMD-Predictor permettent respectivement de prédire l’effet d’une mutation sur l’épissage et la fonction de la protéine. Ils ont été validés grâce à des jeux de données de référence et/ou issus de la littérature, et peuvent aider les cliniciens à annoter correctement les variations de signification inconnue. De plus, cette thèse propose deux outils à visées thérapeutiques : Skip-E, un outil d’identification des AON candidats à la thérapie par saut d’exon, et NR-Analyser, un système de prédiction des codons de terminaison prématurés candidats à la thérapie par translecture des codons stop.Ces différents systèmes s'intègrent dans un projet plus global dédié à la recherche translationnelle. Par ces deux volets, prédictif et thérapeutique, cette thèse s’inscrit dans une stratégie de recherche en adéquation avec les objectifs du Consortium International pour la Recherche contre les Maladies Rares, l’IRDiRCAbout 6,000 to 8,000 distinct rare diseases exist today and are estimated to affect 6-8% of the world population. The vast majority of them are genetic and for most of them there is no cure. The genomic revolution has increased the hope of specific treatments based on the gene for many diseases. New technologies have emerged, changing drastically data scale produced in biomedical research. In these conditions, treatment and analysis of data are far from trivial and mere routine, despite spectacular advances in computer technology.This thesis reports the creation of bioinformatics systems, capable of helping researchers and clinicians to identify mutations responsible for certain diseases and to develop new therapies. Thus, the Human Splicing Finder and UMD-Predictor systems predict the effect of a mutation on splicing and protein, respectively. Both bioinformatics systems have been validated through high quality reference datasets, and may help clinicians to properly annotate variations of unknown significance. In addition, this thesis offers two new systems for therapeutic purposes: the Skip-E system identifies optimal candidates AONs for exon skipping therapies, and NR-Analyser, a system that predicts premature termination codons potentially candidates to nonsense readthrough therapies.These different systems are part of a larger project dedicated to translational research. With its predictive and therapeutic aspects, this thesis is part of a research strategy matching with the objectives of the IRDiRC (International Rare Diseases Research Consortium)
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PRITZLAFF, MARY ELIZABETH. "THE IMPACT OF GENETIC COUNSELING ON CLINICAL DECISION MAKING AMONG WOMEN EVALUATED FOR HEREDITARY BREAST AND OVARIAN CANCER RISK." University of Cincinnati / OhioLINK, 2001. http://rave.ohiolink.edu/etdc/view?acc_num=ucin990718328.
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Novak, David. "A multifaceted approach to elucidating the role of BRCA1- and BRCA2- related genes in hereditary breast cancer." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=86576.
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5-10% of hereditary breast cancer cases are caused by germline mutations in well-defined, dominantly acting susceptibility genes such as BRCA1 and BRCA2. However, more than 50% of the genetic predisposition to hereditary breast cancer remains unexplained. In the following thesis, we present a multifaceted approach aimed at further elucidating hereditary breast cancer associated with BRCA1 and BRCA2 interacting genes; specifically, by analyzing the potential contribution from of two previously unscreened BRCA1-associating genes, RAP80 and Abraxas, assessing the presence and risk associated with CHEK2 susceptibility alleles in the previously uninvestigated French Canadian population and by investigating molecular and cellular mechanisms underlying the increased risk associated with PALB2 susceptibility alleles.A combination of genotyping 96 BRCA1/2 negative, high risk breast cancer patients and segregation analysis was utilized in the determination of whether or not RAP80 and Abraxas are breast cancer susceptibility genes. The contribution of CHEK2 associated breast cancer amongst the French Canadian population was determined through the genotyping 25 BRCA1/2 negative, high risk breast cancer and a cohort of 25 controls. Finally, the biological significance of four PALB2 susceptibility alleles was investigated through the use of the cellular cytotoxicity assay WST-1, telomere specific Q-FISH, centromere specific FISH and spectral karyotyping.
The results presented herein suggest that both RAP80 and Abraxas are not high to moderately penetrant breast cancer susceptibility genes. Further, our results suggest that alleles other than the CHEK2 1100delC are unlikely to significantly contribute to the hereditary breast cancer risk in the French Canadian population. Lastly, the results obtained throughout our analysis of PALB2 heterozygous cell lines may be suggestive of a possible chromosomal instability phenotype predisposing carriers to additional tumourgenic mechanisms.
5-10% des cas de cancer héréditaire du sein sont causés par des mutations germinales dans des gènes des susceptibilité bien caractérisés et à l'effet dominant tel les gènes BRCA1 et BRCA2. Cependant, plus de 50% de la prédisposition génétique au cancer du sein héréditaire demeure inexpliquée. Dans cette thèse, nous présentons une approche à trois volets ayant pour but d'étudier les cas de cancer héréditaire du sein associés avec des gènes interagissant avec BRCA1 et BRCA2. D'abord, nous analysons la contribution potentielle de deux gènes peu caractérisés qui sont partenaires de BRCA1 : RAP80 et Abraxas. Nous étudions ensuite le risque associé avec la présence d'allèles nouveaux ou connus du gène CHEK2 jamais encore caractérisés dans la population canadienne française. Enfin, nous examinons les mécanismes cellulaires et moléculaires responsables de l'augmentation du risque de cancer du sein conférée par des allèles à risque du gène PALB2.
Nous avons utilisé une combinaison de génotypage chez 96 patients souffrant du cancer du sein mais étant non porteurs de mutations dans BRCA1/2 et d'analyse de ségrégation des mutations et des phénotypes dans leurs familles afin de déterminer si RAP80 et Abraxas sont ou non des gènes de prédisposition au cancer héréditaire du sein. La contribution au risque de cancer du sein du gène CHEK2 fût déterminée grâce au génotypage de 25 cas à haut risque, non porteurs de mutations chez BRCA1/2, et de 25 contrôles sans cancer. Finalement, nous avons étudié 4 allèles nonsense du gène PALB2 à l'aide du test de toxicité cellulaire WST-1 ainsi qu'en utilisant l'analyse Q-FISH spécifique aux télomères, l'analyse FISH spécifique aux centromères et finalement par caryotype spectral (SKY).
Les résultats présentés dans cet ouvrage suggèrent que RAP80 et Abraxas ne sont pas des gènes de susceptibilité au cancer du sein à pénétrance moyenne ou élevée. De plus, il est peu probable que des allèles du gène CHEK2 autres que l'allèle connu 1100delC contribuent de façon significative au risque de cancer du sein héréditaire dans la population canadienne française. Par contre, les résultats de notre analyse du gène PALB2 dans les lignées cellulaires hétérozygotes pour un allèle nonsense suggèrent la possibilité que la présence de ces allèles crée de l'instabilité chromosomique chez les porteurs de mutations qui puissent prédisposer à la progression tumorale.
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Marafie, Makia. "Investigations of BRCA1 or BRCA2 gene changes in women affected by early onset breast or ovarian cancer." Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311839.
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Santos, Catarina Gomes Rodrigues. "Avaliação da patogenicidade de mutações germinativas de significado desconhecido nos genes BRCA1 e BRCA2 em famílias portuguesas." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/9163.
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Oliveira, Rui Alberto Caldas de. "Selecção das mulheres com critérios para a pesquiza de mutação BRCA1/BRCA2 no Centro hospitalar do Porto." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/21136.
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Chalabi, Nasséra. "Lycopène et cancer du sein : effets sur les oncosuppresseurs BRCA1 et BRCA2 : étude de la signature moléculaire." Clermont-Ferrand 1, 2006. http://www.theses.fr/2006CLF1MM06.
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Dans les cancers du sein ; la prédisposition héréditaire (5 à 10 % des cas) correspond à une mutation dans un des 2 oncosuppresseurs, BRCA1 ou BRCA2 alors que dans les formes sporadiques, c'est une diminution de l'expression des ARNm qui est retrouvée. Le lycopène, caroténoïde de la tomate pourrait jouer un rôle dans la prévention des cancers grâce à sa forte activité anti-oxydante. L'objectif de ce travail a été de déterminer si le lycopène pouvait moduler l'expression des gènes impliqués dans la cancérogenèse mammaire et par quelles voies métaboliques. Pour cela, une étude in vitro sur des cellules mammaires humaines tumorales (MCF-7, HBL-100, MDA-MB-231) et dystrophiques (MCF-10a) a été réalisée. Dans un 1er temps, les résultats ont montré une modulation de l'expression des ARNm BRCA1 et BRCA2, par RT-PCR quantitative en temps réel (Taqman®) et des protéines BRCA1 et BRCA2 phosphorylées par chromatographie d'affinité (BioCAD®), suite au traitement avec 10 µM de lycopène pendant 48H. Dans un 2ème temps, une signature moléculaire des cellules mammaires humaines traitées par le lycopène, a été établie grâce à la technologie des biopuces transcriptome. Les résultats ont permis de mettre en évidence une régulation des gènes impliqués dans le cycle cellulaire, l'apoptose et la réparation des lésions de l'ADN. En conclusion, le lycopène semble interagir avec de nombreuses voies métaboliques impliquées dans la cancérogenèse mammaire laissant supposer que ce caroténoïde pourrait jouer un rôle préventif dans cette pathologieIn breast cancer, hereditary predisposition (5 or 10 % of cases) can involve germline mutations of BRCA1 or BRCA2 oncosuppressors, whereas in sporadic forms a decrease of BRCA1 and BRCA2 mRNA has been observed. Lycopene, a tomato carotenoid, might play a role in cancer prevention throught its strong antioxidant activity. The aim of this work was to determine if lycopene could modulate the expression of genes involved in breast cancer and through which metabolic pathways. An in vitro study of human breast cancer cell lines (MCF-7, HBL-100, MDA-MB-231) and a dystrophic cell line (MCF-10a) was carried out. The results showed modulation of BRCA1 and BRCA2 mRNA expression by quantitative RT-PCR (Taqman®) and phosphorylation of BRCA1 and BRCA2 proteins by affinity chromatography (BioCAD®), after exposure to 10 µM lycopene for 48 hours. A transcriptomic microarray study was performed to determine the molecular signature of human breast cancer cell lines after lycopene treatment. Our results highlight lycopene regulation of genes involved in cell cycle, apoptosis and DNA repair. In conclusion, lycopene seems to interact with many metabolic pathways involved breast cancer, suggesting that this carotenoid could play a preventive role in this pathology