首页> 外文期刊>World Journal of Oncology >DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)
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DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)

机译:DNA损伤修复(DDR)突变和高风险遗传学诊所在转移性去势难治性前列腺癌(mCRPC)中的应用

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Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline BRCA2 variant. We discuss the significance of his referral to a high-risk genetics clinic and the unique targeted therapy that he responded to.World J Oncol. 2018;9(4):119-122doi: https://doi.org/10.14740/wjon1144w.
机译:DNA修复基因中的生殖系致病变异(PVs)在转移性前列腺癌中引起了越来越多的关注,并且越来越多的患者进行了体细胞和生殖系DNA测试。对许多临床医生而言,种系DNA检测的解释是一个新的挑战,种系DNA修复基因检测的结果对患有晚期前列腺癌的男性及其子女和兄弟姐妹具有重要意义。在这里,我们报道一例患有转移性去势难治性前列腺癌和致病性种系BRCA2变异的人的病例。我们讨论了他转诊到高风险遗传学诊所的重要性以及他对此作出反应的独特靶向疗法.World J Oncol。 2018; 9(4):119-122doi:https://doi.org/10.14740/wjon1144w。

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