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An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes

25 Aug 2022

Abstract excerpt

Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is grossly underutilized in the assessment of germline genetic variants. Here, we present a comprehensive approach for evaluating the pathogenicity of germline variants...

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Identifiers

PMID: 36091175
DOI: 10.3389/fonc.2022.942741

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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