Somatic mutation panels: Time to clear their names

被引:14
作者
Trottier, Amy M. [1 ]
de Andrade Silva, Marcela Cavalcante [1 ,2 ]
Li, Zejuan [3 ]
Godley, Lucy A. [1 ,4 ]
机构
[1] Univ Chicago, Comprehens Canc Ctr, Dept Med, Sect Hematol Oncol, 5841 S Maryland Ave,MC 2115, Chicago, IL 60637 USA
[2] Hosp Univ Prof Alberto Antunes HU UFAL, Maceio, Alagoas, Brazil
[3] Houston Methodist Hosp, Dept Pathol & Genom Med, Houston, TX 77030 USA
[4] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
关键词
Germline predisposition; Next generation sequencing; Cancer; Somatic variant; Germline variant; Clonal hematopoiesis; GERMLINE MUTATIONS; CLONAL HEMATOPOIESIS; CANCER-RISK; MYELODYSPLASTIC SYNDROMES; GENETIC PREDISPOSITION; DYSKERATOSIS-CONGENITA; TUMOR; VARIANTS; DNA; GUIDELINES;
D O I
10.1016/j.cancergen.2019.04.065
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
With improvements in DNA sequencing technologies and the consequent reduction in costs, next generation sequencing is being utilized increasingly in panel-based testing to perform molecular profiling of tumors. Such tumor-based panels are often referred to as 'somatic' panels, but this term is misleading and should not be used, since not all DNA variants within a tumor are somatic in nature. Every cell in a person's body contains that person's germline DNA, including tumor cells. Moreover, tumor samples are invariably contaminated with blood, a tissue that can contain somatic mutations itself in a process now called clonal hematopoiesis. Differentiating be-tween germline variants or tumor-associated somatic mutations versus clonal hematopoiesis can be challenging. In this review, we address how to interpret the results of somatic mutation panels, how to differentiate between germline and truly somatic events, and discuss the importance of this distinction.
引用
收藏
页码:84 / 92
页数:9
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