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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

PLoS genetics - 1 Aug 2023

Kumpula Timo A, Vorimo Sandra, Mattila Taneli T, O'Gorman Luke, Astuti Galuh, Tervasmäki Anna, Koivuluoma Susanna, Mattila Tiina M, Grip Mervi, Winqvist Robert, Kuismin Outi, Moilanen Jukka, Hoischen Alexander, Gilissen Christian, Mantere Tuomo, Pylkäs Katri

Abstract excerpt

Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer susceptibility has not been thoroughly investigated. To address this, we performed whole-exome sequencing based analysis of rare CNVs in 98 high-risk Northern Finnish breast...

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Identifiers

PMID: 37578974
DOI: 10.1371/journal.pgen.1010889
PMCID: PMC10449128

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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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