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Review
. 2020 Aug 3;10(8):a036590.
doi: 10.1101/cshperspect.a036590.

Tumor-Based Genetic Testing and Familial Cancer Risk

Andrea Forman  1 , Jilliane Sotelo  2
Affiliations
Review

Tumor-Based Genetic Testing and Familial Cancer Risk

Andrea Forman et al. Cold Spring Harb Perspect Med. .

Abstract

As genetic testing on somatic tumor tissue becomes a more routine part of personalized cancer treatment, a growing opportunity arises to identify hereditary germline variants within those results. These germline results can affect future cancer screening for both patients and their family members. Finding this germline information can be complicated as a result of differences between somatic and germline testing processes, nomenclature, and outcome goals (e.g., treatment impact). The goal of this review is to highlight differences between somatic and germline testing and outline a potential guide to allow for appropriate clinical interpretation of somatic testing results in order to better facilitate genetic counseling referrals and confirmatory germline testing.

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Figures

Figure 1.
Figure 1.
Flowchart to assess somatic results for potential germline testing.
See this image and copyright information in PMC

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