群体BRCA测序;是时候进入下一阶段了吗?

C. Gourley
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引用次数: 1

摘要

癌症管理的一个基本概念是预防或早期发现比治疗晚期疾病更有效。风险的遗传分层是筛选项目或降低风险手术优先考虑患者的一种方法。这尤其适用于高外显率基因,如BRCA1和BRCA2,因为可以预防的恶性肿瘤与三阴性乳腺癌和高级别浆液性卵巢癌一样致命。获得BRCA1和BRCA2种系测序目前主要基于家族史。
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Population BRCA sequencing; time to move to the next phase?
A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history.
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