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 can restore partial or full BRCA2 function, re-establish homologous recombination, and confer therapy resistance | |Under selective pressure from PARP inhibitors or platinum therapy, secondary somatic mutations can restore partial or full BRCA2 function, re-establish homologous recombination, and confer therapy resistance | ||
|Acquired, tumor-specific resistance mechanism; not inherited | |Acquired, tumor-specific resistance mechanism; not inherited | ||
|Well-described in ovarian, breast, pancreatic, and prostate cancers. Associated with acquired resistance to PARP inhibitors and platinum agents and disease progression | |Well-described in ovarian, breast, pancreatic, and prostate cancers. Associated with acquired resistance to PARP inhibitors and platinum agents and disease progression<ref name=":12" /><ref name=":13" /><ref name=":14">Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Resistance to therapy caused by intragenic deletion in BRCA2. Nature. 2008 Feb 28;451(7182):1111-5. doi: 10.1038/nature06548. Epub 2008 Feb 10. PMID: 18264088.</ref> | ||
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
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<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 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 name=":14" />Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, Boyd J, Reis-Filho JS, Ashworth A. Resistance to therapy caused by intragenic deletion in BRCA2. Nature. 2008 Feb 28;451(7182):1111-5. doi: 10.1038/nature06548. Epub 2008 Feb 10. PMID: 18264088. | |||