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BRCA 检测在卵巢癌患者及其亲属中的实施建议。

Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.

机构信息

Oncology Department, IRCCS Sacro Cuore Don Calabria, Negrar, Verona, Italy.

Pathology Unit, European Institute of Oncology, Milan, Italy.

出版信息

Crit Rev Oncol Hematol. 2019 Aug;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. Epub 2019 May 25.

Abstract

The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family members of ovarian cancer patients, is the identification of carriers of pathogenic variant, who have inheredited predisposition to cancer development (test for cancer risk). These individuals with increased risk of cancer, should be encouraged to participate in dedicated high-risk surveillance clinics and specific risk-reducing measures (primary and/or secondary prevention programs).

摘要

目前,有多种聚 ADP-核糖聚合酶(PARP)抑制剂可用于治疗卵巢癌患者,无论是否存在 BRCA 致病性变异,同时还验证了用于分析 BRCA1/2 基因的体细胞检测,这涉及到需要优化 BRCA 检测指南。在意大利用人肿瘤学会-意大利妇科肿瘤学会-意大利生物化学学会-意大利妇产科医师学会-意大利癌症学会等 5 家意大利科学协会的这份立场文件中,建议实施 BRCA 检测,主要有两个目标:第一个是确定更有可能从特定抗癌治疗中获益的卵巢癌患者(检测治疗反应);第二个目标是通过对卵巢癌患者的家庭成员进行 BRCA 检测,确定致病性变异的携带者,这些人具有癌症发展的遗传易感性(检测癌症风险)。这些癌症风险增加的个体,应鼓励他们参加专门的高危监测诊所和特定的降低风险措施(一级和/或二级预防计划)。

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