Somatic mutation panels: Time to clear their names

A. M. Trottier, Marcela Cavalcante de Andrade Silva, Zejuan Li, Lucy A. Godley

Research output: Contribution to journalReview article

8 Scopus citations

Abstract

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 between 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.

Original languageEnglish (US)
Pages (from-to)84-92
Number of pages9
JournalCancer Genetics
Volume235-236
DOIs
StatePublished - Jun 2019

Keywords

  • Cancer
  • Clonal hematopoiesis
  • Germline predisposition
  • Germline variant
  • Next generation sequencing
  • Somatic variant

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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