GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2): Difference between revisions
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|Documented in ovarian and breast cancers and associated with acquired resistance to PARP inhibitors and platinum agents and disease progression<ref name=":12">Norquist B, Wurz KA, Pennil CC, Garcia R, Gross J, Sakai W, Karlan BY, Taniguchi T, Swisher EM. Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas. J Clin Oncol. 2011 Aug 1;29(22):3008-15. doi: 10.1200/JCO.2010.34.2980. Epub 2011 Jun 27. PMID: 21709188; PMCID: PMC3157963. | |Documented in ovarian and breast cancers and associated with acquired resistance to PARP inhibitors and platinum agents and disease progression<ref name=":12">Norquist B, Wurz KA, Pennil CC, Garcia R, Gross J, Sakai W, Karlan BY, Taniguchi T, Swisher EM. Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas. J Clin Oncol. 2011 Aug 1;29(22):3008-15. doi: 10.1200/JCO.2010.34.2980. Epub 2011 Jun 27. PMID: 21709188; PMCID: PMC3157963. | ||
</ref><ref name=":13">Goodall J, Mateo J, Yuan W, Mossop H, Porta N, Miranda S, Perez-Lopez R, Dolling D, Robinson DR, Sandhu S, Fowler G, Ebbs B, Flohr P, Seed G, Rodrigues DN, Boysen G, Bertan C, Atkin M, Clarke M, Crespo M, Figueiredo I, Riisnaes R, Sumanasuriya S, Rescigno P, Zafeiriou Z, Sharp A, Tunariu N, Bianchini D, Gillman A, Lord CJ, Hall E, Chinnaiyan AM, Carreira S, de Bono JS; TOPARP-A investigators. Circulating Cell-Free DNA to Guide Prostate Cancer Treatment with PARP Inhibition. Cancer Discov. 2017 Sep;7(9):1006-1017. doi: 10.1158/2159-8290.CD-17-0261. Epub 2017 Apr 27. PMID: 28450425; PMCID: PMC6143169.</ref> | </ref><ref name=":13">Goodall J, Mateo J, Yuan W, Mossop H, Porta N, Miranda S, Perez-Lopez R, Dolling D, Robinson DR, Sandhu S, Fowler G, Ebbs B, Flohr P, Seed G, Rodrigues DN, Boysen G, Bertan C, Atkin M, Clarke M, Crespo M, Figueiredo I, Riisnaes R, Sumanasuriya S, Rescigno P, Zafeiriou Z, Sharp A, Tunariu N, Bianchini D, Gillman A, Lord CJ, Hall E, Chinnaiyan AM, Carreira S, de Bono JS; TOPARP-A investigators. Circulating Cell-Free DNA to Guide Prostate Cancer Treatment with PARP Inhibition. Cancer Discov. 2017 Sep;7(9):1006-1017. doi: 10.1158/2159-8290.CD-17-0261. Epub 2017 Apr 27. PMID: 28450425; PMCID: PMC6143169.</ref> | ||
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|''BRCA2'' | |''BRCA2'' | ||
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|In individuals with a germline pathogenic BRCA2 variant, tumorigenesis follows a two-hit mechanism. Somatic loss of the remaining wild-type allele leads to complete loss of BRCA2 function, defective homologous recombination repair, genomic instability, and tumor development | |In individuals with a germline pathogenic BRCA2 variant, tumorigenesis follows a two-hit mechanism. Somatic loss of the remaining wild-type allele leads to complete loss of BRCA2 function, defective homologous recombination repair, genomic instability, and tumor development | ||
|Somatic event occurs in tumor tissue only; not inherited. Tumor phenotype shows homologous recombination deficiency (HRD) | |Somatic event occurs in tumor tissue only; not inherited. Tumor phenotype shows homologous recombination deficiency (HRD) | ||
|Common mechanism in BRCA2-associated breast, ovarian, pancreatic, and prostate cancers. Presence of biallelic loss predicts sensitivity to platinum chemotherapy and PARP inhibitors | |Common mechanism in BRCA2-associated breast, ovarian, pancreatic, and prostate cancers. Presence of biallelic loss predicts sensitivity to platinum chemotherapy and PARP inhibitors<ref name=":0" /><ref name=":10" /> | ||
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|''BRCA2'' | |''BRCA2'' | ||