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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Scientific reports - 6 Dec 2019

Dominguez-Valentin Mev, Nakken Sigve, Tubeuf Hélène, Vodak Daniel, Ekstrøm Per Olaf, Nissen Anke M, Morak Monika, Holinski-Feder Elke, Holth Arild, Capella Gabriel, Davidson Ben, Evans D Gareth, Martins Alexandra, Møller Pål, Hovig Eivind

Abstract excerpt

We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal cancer (CRC) and 19 multiple early-onset cancers were included. A panel of 44 cancer-predisposing genes identified 5% (9/191) pathogenic or likely pathogenic variants and 87 variants of...

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Identifiers

PMID: 31811167
DOI: 10.1038/s41598-019-54517-z
PMCID: PMC6898579

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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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