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

被引:14
|
作者
van Marcke, Cedric [1 ,2 ,3 ]
De Leener, Anne [4 ]
Berliere, Martine [5 ]
Vikkula, Miikka [3 ]
Duhoux, Francois P. [1 ,2 ,5 ]
机构
[1] Catholic Univ Louvain, Clin Univ St Luc, Dept Med Oncol, King Albert Canc Inst 2, Brussels, Belgium
[2] Catholic Univ Louvain, Inst Rech Clin & Expt Pole MIRO, Brussels, Belgium
[3] Catholic Univ Louvain, Duve Inst, Lab Human Mol Genet GEHU, Brussels, Belgium
[4] Clin Univ St Luc, Dept Med Genet, Brussels, Belgium
[5] Clin Univ St Luc, Breast Clin, King Albert Canc Inst 2, Brussels, Belgium
关键词
Hereditary breast cancer; Gene panel testing; Personalized care; Variants of unknown significance; PEUTZ-JEGHERS-SYNDROME; GERMLINE PTEN MUTATIONS; RISK-REDUCING SURGERY; LI-FRAUMENI SYNDROME; OVARIAN-CANCER; CONFER SUSCEPTIBILITY; CLINICAL-SIGNIFICANCE; SEQUENCE VARIANTS; BRCA2; MUTATIONS; LYNCH-SYNDROME;
D O I
10.1016/j.critrevonc.2016.10.008
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
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. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:33 / 39
页数:7
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