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Article

Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies.

Carcinogenesis - 15 Oct 2020

Gorlov Ivan P, Xia Xiangjun, Tsavachidis Spiridon, Gorlova Olga Y, Amos Christopher I

Abstract excerpt

We hypothesized that a joint analysis of cancer risk-associated single-nucleotide polymorphism (SNP) and somatic mutations in tumor samples can predict functional and potentially causal SNPs from GWASs. We used mutations reported in the Catalog of Somatic Mutations in Cancer (COSMIC). Confirmed somatic mutations were subdivided into two groups: (1) mutations reported as SNPs, which we call mutational/SNPs and (2)...

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Identifiers

PMID: 32681635
DOI: 10.1093/carcin/bgaa077
PMCID: PMC7566444

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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