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Current Approaches to Germline Cancer Genetic Testing.
Annual Review of Medicine ( IF 15.1 ) Pub Date : 2020-01-27 , DOI: 10.1146/annurev-med-052318-101009
Elena M Stoffel 1 , John M Carethers 1, 2
Affiliation  

The prevalence of genetic predisposition to cancer is greater than initially appreciated, yet most affected individuals remain undiagnosed. Deleterious germline variants in cancer predisposition genes are implicated in 1 in 10 cases of advanced cancer. Next-generation sequencing technologies have made germline and tumor DNA sequencing more accessible and less expensive. Expanded access to clinical genetic testing will improve identification of individuals with genetic predisposition to cancer and provide opportunities to effectively reduce morbidity through precision cancer therapies and surveillance. Cross-disciplinary clinical education in genomic medicine is needed to translate advances in genomic medicine into improved health outcomes.

中文翻译:

生殖系癌症基因检测的当前方法。

癌症遗传易感性的患病率比最初认识的要高,但大多数受影响的个体仍未得到诊断。癌症易感基因中有害的种系变异与十分之一的晚期癌症病例有关。下一代测序技术使种系和肿瘤 DNA 测序更容易获得且成本更低。扩大临床基因检测的使用范围将提高对具有癌症遗传倾向的个体的识别,并提供通过精确的癌症治疗和监测有效降低发病率的机会。基因组医学的跨学科临床教育需要将基因组医学的进步转化为改善的健康结果。
更新日期:2020-04-21
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