Academic literature on the topic 'BRCA1'
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Journal articles on the topic "BRCA1"
Friedlander, Michael, Kathleen N. Moore, Nicoletta Colombo, Giovanni Scambia, Byoung-Gie Kim, Ana Oaknin, Alla Sergeevna Lisyanskaya, et al. "Efficacy of maintenance olaparib for newly diagnosed, advanced ovarian cancer patients (pts) by BRCA1 or BRCA2 mutation in the phase III SOLO1 trial." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 5551. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.5551.
Full textZhang, Yinuo. "BRCA1, BRCA2 and primary ovarian insufficiency." E3S Web of Conferences 165 (2020): 05009. http://dx.doi.org/10.1051/e3sconf/202016505009.
Full textShao, Changxia, Michael S. Chang, Fred C. Lam, Andrew R. Marley, Huilin Tang, Yiqing Song, Chelsey Miller, et al. "A Systematic Review and Meta-Analysis on the Prognostic Value of BRCA Mutations, Homologous Recombination Gene Mutations, and Homologous Recombination Deficiencies in Cancer." Journal of Oncology 2022 (July 20, 2022): 1–12. http://dx.doi.org/10.1155/2022/5830475.
Full textRichters, Lisa Katharina, Philip C. Schouten, Stefan Kommoss, Jan Hauke, Alexander Burges, Dimo Dietrich, Ahmed El-Balat, et al. "BRCA-like classification in ovarian cancer: Results from the AGO-TR1-trial." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): 5546. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.5546.
Full textWang, Aifen, Robert W. Holloway, Lijuan Cui, Yan Sun, and Zihan Zhao. "Association betweenBRCA1 and BRCA2 mutations and prognosis in women with endometrial carcinoma." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e17115-e17115. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e17115.
Full textLabidi-Galy, Sana Intidhar, Manuel Rodrigues, Jose L. Sandoval, Jean Emmanuel Kurtz, Florian Heitz, Anna Maria Mosconi, Ignacio Romero, et al. "Efficacy of maintenance olaparib plus bevacizumab in patients with newly diagnosed advanced ovarian cancer according to BRCA mutation genotype in the phase III PAOLA-1/ENGOT-ov25 trial." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 5571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.5571.
Full textLabidi-Galy, Sana Intidhar, Manuel Rodrigues, Jose L. Sandoval, Jean Emmanuel Kurtz, Florian Heitz, Anna Maria Mosconi, Ignacio Romero, et al. "Efficacy of maintenance olaparib plus bevacizumab in patients with newly diagnosed advanced ovarian cancer according to BRCA mutation genotype in the phase III PAOLA-1/ENGOT-ov25 trial." Journal of Clinical Oncology 40, no. 16_suppl (June 1, 2022): 5571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.5571.
Full textPonce, Jordi, Sergi Fernandez-Gonzalez, Iris Calvo, Maite Climent, Judith Peñafiel, Lidia Feliubadaló, Alex Teulé, et al. "Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers." International Journal of Gynecologic Cancer 30, no. 1 (November 27, 2019): 83–88. http://dx.doi.org/10.1136/ijgc-2019-000626.
Full textSy, Shirley M. H., Michael S. Y. Huen, and Junjie Chen. "PALB2 is an integral component of the BRCA complex required for homologous recombination repair." Proceedings of the National Academy of Sciences 106, no. 17 (April 15, 2009): 7155–60. http://dx.doi.org/10.1073/pnas.0811159106.
Full textArun, Banu, Angelica Gutierrez Barrera, Rachel M. Layman, Stephen K. Gruschkus, Isabelle Bedrosian, Constance T. Albarracin, Carlos Hernando Barcenas, Vicente Valero, Jennifer Keating Litton, and Debu Tripathy. "Outcome of patients with breast cancer and a germline BRCA mutation in a prospective cohort." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 1544. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1544.
Full textDissertations / Theses on the topic "BRCA1"
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 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 textBooks on the topic "BRCA1"
Winter, Sherry Lynn. Identification of BRCA1 interacting proteins. Ottawa: National Library of Canada, 2000.
Find full textCanadian Coordinating Office for Health Technology Assessment., ed. A clinical systematic review of BRCA1 and BRCA2 genetic testing for breast and ovarian cancers. Ottawa: Canadian Coordinating Office for Health Technology Assessment, 2006.
Find full textNational Institutes of Health (U.S.). Clinical Center and National Institutes of Health (U.S.). Office of Clinical Center Communications, eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.
Find full textNational Institutes of Health (U.S.). Clinical Center. and National Institutes of Health (U.S.). Office of Clinical Center Communications., eds. Answers to your questions: Testing for BRCA1. [Bethesda, Md.?]: The Warren Grant Magnuson Clinical Center, 1996.
Find full textLynda, McGahan, and Canadian Coordinating Office for Health Technology Assessment, eds. BRCA1 and BRCA2 predictive genetic testing for breast and ovarian cancers: A systematic review of clinical evidence. Ottawa: CCOHTA, 2006.
Find full textReczek, Colleen Renee. The Role of CtIP in BRCA1-Mediated Tumor Suppression. [New York, N.Y.?]: [publisher not identified], 2012.
Find full textReid, Latarsha. Analysis of The RING Domain And BRCT Repeats of BRCA1. [New York, N.Y.?]: [publisher not identified], 2011.
Find full textGabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters, and the BRCA gene. New York: Scribner, 2009.
Find full textGabriel, Sarah. Eating pomegranates: A memoir of mothers, daughters and genes. Rearsby: Clipper Large Print, 2010.
Find full textH, Lu Karen, ed. Hereditary gynecologic cancer: Risk, prevention, and management. New York: Informa Healthcare, 2008.
Find full textBook chapters on the topic "BRCA1"
Solano, Angela R., Florrcencia C. Cardoso, Pablo G. Mele, and Ernesto J. Podesta. "BRCA1 and BRCA2." In Encyclopedia of Signaling Molecules, 572–78. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_101898.
Full textWideman, Timothy H., Michael J. L. Sullivan, Shuji Inada, David McIntyre, Masayoshi Kumagai, Naoya Yahagi, J. Rick Turner, et al. "BRCA1 and BRCA2." In Encyclopedia of Behavioral Medicine, 263–64. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_941.
Full textMose, Stephan, Stephan Mose, Brandon J. Fisher, Iris Rusu, Charlie Ma, Lu Wang, Larry C. Daugherty, et al. "BRCA1 and BRCA2." In Encyclopedia of Radiation Oncology, 64. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-540-85516-3_193.
Full textSolano, Angela R., Florrcencia C. Cardoso, Pablo G. Mele, and Ernesto J. Podesta. "BRCA1 and BRCA2." In Encyclopedia of Signaling Molecules, 1–6. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6438-9_101898-1.
Full textHamann, Heidi. "BRCA1 and BRCA2." In Encyclopedia of Behavioral Medicine, 303–4. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-39903-0_941.
Full textKiechle, Marion. "Hereditäres Mamma- und Ovarialkarzinom: BRCA1, BRCA2 und BRCA3." In 125 Jahre Deutsche Gesellschaft für Gynäkologie und Geburtshilfe, 487–98. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-15012-8_26.
Full textHoldenrieder, S., and P. Stieber. "BRCA1." In Springer Reference Medizin, 483–84. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_618.
Full textHoldenrieder, S., and P. Stieber. "BRCA1." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-49054-9_618-1.
Full textLeung, Alexander K. C., Marcus Schmitt, Christie P. Thomas, Cord Sunderkötter, Meinhard Schiller, Thomas Schwarz, Mark Berneburg, et al. "BRCA1." In Encyclopedia of Molecular Mechanisms of Disease, 245–46. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7670.
Full textVenkitaraman, Ashok R. "Breast Cancer Genes BRCA1 and BRCA2." In Encyclopedia of Cancer, 510–13. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_718.
Full textConference papers on the topic "BRCA1"
Gomes, Marina Macedo, and Kamylle Cynnara Tavares da Silva. "MUTAÇÃO DOS GENES BRCA1 E BRCA2 COMO ETIOLOGIA GENÉTICA DO CÂNCER DE MAMA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/8.
Full textMukhopadhyay, Asima, Nicola Curtin, and Richard Edmondson. "Evaluation of different methods to assess homologous recombination status and sensitivity to PARP inhibitors in ovarian cancer." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685289.
Full textWeyandt, JD, C. Snyder, HT Lynch, E. Gillanders, TN Holmes, J. Bailey-Wilson, and RE Ellsworth. "Identification of BRCA1 and BRCA2 genetic modifiers." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-1040.
Full textSilva, Manuella Amlid Pimenta de Castro Cavalcanti, Caio Victor Barros Gonçalves da Silva, Dryelli Frances Santana da Silva, Laura Lucena Serafim, Ryan Cristian da Silva, and Celina Cavalcante Muniz Gomes. "A METILAÇÃO DO DNA COMO BIOMARCADOR NO PROGNÓSTICO E DIAGNÓSTICO DO CÂNCER OVARIANO: REVISÃO DE LITERATURA." In XXVII Semana de Biomedicina Inovação e Ciência. Editora IME, 2021. http://dx.doi.org/10.51161/9786588884119/2.
Full textBotesteanu, Dana-Adriana, Doron Levy, and Jung-Min Lee. "Abstract 2709: Mathematical modeling for prediction of secondary BRCA1 and BRCA2 mutations in ovarian cancers with deleterious germline BRCA1 and BRCA2 mutations." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-2709.
Full textFarias, Stephanie Freire Soares de, Graziela Gama da Conceição Gomes, Biatriz Costa Diniz, CAIO DE BRITO MATOS, and MARCOS VINÍCIUS SOUZA DE ALMEIDA. "GENES RELACIONADOS AO CÂNCER DE MAMA: UM ESTUDO ACERCA DOS ONCOGENES." In I Congresso Nacional de Pesquisas e Estudos Genéticos On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/geneticon/9136.
Full textDuan, Haohui, Rachel Reed, Judy Garber, and Shailja Pathania. "Abstract PR05: Distinct BRCA1- and BRCA2-specific functions at stalled replication forks: Clinical implications for differences between BRCA1 and BRCA2 mutation-driven cancer." In Abstracts: AACR Special Conference on DNA Repair: Tumor Development and Therapeutic Response; November 2-5, 2016; Montreal, QC, Canada. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1557-3125.dnarepair16-pr05.
Full textAdams, Scott M., Kruti M. Patel, Amy B. Emerman, Sarah K. Bowman, Charles D. Elfe, Noa Henig, Salvatore Russello, Andrew Barry, Theodore Davis, and Cynthia L. Hendrickson. "Abstract 5362: Targeting BRCA1 and BRCA2 with NEBNext Direct™." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-5362.
Full textOzanne, EM, L. Cipriano, M. Cameron, T. Newman, and LJ Esserman. "Cost-effectiveness of genetic testing for BRCA1 and BRCA2 mutations." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-6100.
Full textDurocher, Daniel. "Abstract IA06: Regulation of BRCA1- and BRCA2-dependent DNA repair." In Abstracts: AACR Special Conference: Advances in Ovarian Cancer Research: Exploiting Vulnerabilities; October 17-20, 2015; Orlando, FL. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1557-3265.ovca15-ia06.
Full textReports on the topic "BRCA1"
Schwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2005. http://dx.doi.org/10.21236/ada443929.
Full textSchwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2004. http://dx.doi.org/10.21236/ada429130.
Full textSchwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2007. http://dx.doi.org/10.21236/ada519028.
Full textSchwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2008. http://dx.doi.org/10.21236/ada520553.
Full textSchwartz, Marc D. Long Term Outcomes of BRCA1/BRCA2 Mutation Testing. Fort Belvoir, VA: Defense Technical Information Center, August 2006. http://dx.doi.org/10.21236/ada461957.
Full textSung, Patrick M. Interactions Among BRCA1, BRCA2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2002. http://dx.doi.org/10.21236/ada407213.
Full textSung, Patrick M. Interactions Among Brca1, Brca2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2003. http://dx.doi.org/10.21236/ada417993.
Full textSung, Patrick M. Interactions Among BRCA1, BRCA2, and Components of the Recombination Machinery. Fort Belvoir, VA: Defense Technical Information Center, June 2000. http://dx.doi.org/10.21236/ada393509.
Full textLynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 2001. http://dx.doi.org/10.21236/ada395893.
Full textLynch, Henry T. Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses. Fort Belvoir, VA: Defense Technical Information Center, July 1999. http://dx.doi.org/10.21236/ada374220.
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