GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2): Difference between revisions
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|Under selective pressure from PARP inhibitors or platinum therapy, secondary somatic mutations may restore BRCA1 function, re-establish homologous recombination, and confer therapeutic resistance | |Under selective pressure from PARP inhibitors or platinum therapy, secondary somatic mutations may restore BRCA1 function, re-establish homologous recombination, and confer therapeutic resistance | ||
|Acquired resistance mechanism; tumor-specific; not inherited | |Acquired resistance mechanism; tumor-specific; not inherited | ||
|Documented in ovarian and breast cancers and associated with acquired resistance to PARP inhibitors and platinum agents and disease progression [4,5] | |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> [4,5] | |||
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|''BRCA2'' | |''BRCA2'' | ||
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<ref name=":11" />Esteller M, Silva JM, Dominguez G, Bonilla F, Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M, Baylin SB, Herman JG. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst. 2000 Apr 5;92(7):564-9. doi: 10.1093/jnci/92.7.564. PMID: 10749912. | <ref name=":11" />Esteller M, Silva JM, Dominguez G, Bonilla F, Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M, Baylin SB, Herman JG. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst. 2000 Apr 5;92(7):564-9. doi: 10.1093/jnci/92.7.564. PMID: 10749912. | ||
<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 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. | |||