Dissertations / Theses on the topic 'BRCA2'
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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.
Full textMavaddat, 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.
Full textBatista, Rui Pedro Monteiro. "Caracterização das mutações dos genes BRCA1 e BRCA2." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10136.
Full textO 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.
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.
Full textAl, 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.
Full textHadjisavvas, 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.
Full textGinolhac, 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.
Full textArver, Brita. "Hereditary breast/ovarian cancer : implementation of BRCA1 & BRCA2 testing /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4799-6/.
Full textMitra, 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.
Full textRenwick, 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.
Full textZimmer, 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.
Full textSchofield, 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.
Full textBecker, 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.
Full textNelson, 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.
Find full textTypescript. Includes bibliographical references (leaves 144-158). Free to UCD affiliates. Online version available via ProQuest Digital Dissertations;
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.
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.
Full textGoveia, 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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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES
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.
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/.
Full textIntroduction: 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
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.
Full textCurtit, Elsa. "Rôle des déterminants génétiques constitutionnels dans le cancer du sein." Thesis, Bourgogne Franche-Comté, 2017. http://www.theses.fr/2017UBFCE017.
Full textAs 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
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.
Full textThere 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.
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.
Full textKuchenbaecker, 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.
Full textMohr, 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.
Full textMohr, 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.
Full textOh, 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.
Full textPagliaretta, 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.
Full textApproximately 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.
Huusko, P. (Pia). "Predisposing genes in hereditary breast and ovarian cancer." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514254422.
Full textKREKEL, 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.
Full textVallée, 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.
Full textGermline 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)
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.
Full textLiu, 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.
Full textAbdolahad, 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.
Full textVissac-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.
Full textColin, 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.
Full textThe 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
Kast, Karin, and Kerstin Rhiem. "Familial Breast Cancer: Targeted Therapy in Secondary and Tertiary Prevention." Karger, 2015. https://tud.qucosa.de/id/qucosa%3A71423.
Full textBodily, Weston Reed. "Integrative Analysis to Evaluate Similarity Between BRCAness Tumors and BRCA Tumors." BYU ScholarsArchive, 2017. https://scholarsarchive.byu.edu/etd/6800.
Full textCederberg, 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.
Full textDesjardins, 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.
Full textKeenan, 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/.
Full textGhaffari, 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/.
Full textPh.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.
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.
Full textCrowdes, 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.
Full textRai, 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.
Full textAbout 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)
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.
Full textNovak, 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.
Full textA 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.
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.
Full textSantos, 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.
Full textOliveira, 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.
Full textChalabi, 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.
Full textIn 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