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PMID: 27931838 已发表 · ppublish 英语

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

Critical reviews in oncology/hematology ·第 108 卷 ·0000-00-00

van Marcke Cedric, De Leener Anne, Berlière Martine, Vikkula Miikka, Duhoux Francois P

摘要

Breast cancer is the most frequent cancer occurring in women. Ten percent of these cancers are considered hereditary. Among them, 30% are attributed to germline mutations in the tumor suppressor genes BRCA1 and BRCA2. Other genes of lower penetrance are also known, explaining together up to 40% of the hereditary risk of breast cancer. New techniques, such as next-generation sequencing, allow the simultaneous analysis of multiple genes in a cost-effective way. As a logical consequence, gene panel testing is entering clinical practice with the promise of personalized care. We however advocate that gene panel testing is not ready for non-specialist clinical use, as it generates many variants of unknown significance and includes more genes than are presently considered clinically useful. We hereby review the data for each gene that can change the risk management of patients carrying a pathogenic variant.

关键词
Gene panel testing Hereditary breast cancer Personalized care Variants of unknown significance
文献信息
期刊
Critical reviews in oncology/hematology
期刊简称
Crit Rev Oncol Hematol
发表日期
0000-00-00
收录日期
2016-12-09
更新日期
2016-12-10
语言
英语
国家/地区
Netherlands
NLM ID
8916049
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