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Article

High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.

Breast cancer research and treatment - 1 Apr 2020

Rainville Irene, Hatcher Shanell, Rosenthal Eric, Larson Katie, Bernhisel Ryan, Meek Stephanie, Gorringe Heidi, Mundt Erin, Manley Susan

Abstract excerpt

PURPOSE: Compared to breast cancer risk genes such as BRCA2, ATM, PALB2, and NBN, no defined phenotype is currently associated with biallelic pathogenic variants (PVs) in CHEK2. This study compared the prevalence of breast and other cancers in women with monoallelic and biallelic CHEK2 PVs. METHODS: CHEK2 PV carriers were identified through commercial hereditary cancer panel testing (09/2013-07/2019). We compared...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31993860
DOI: 10.1007/s10549-020-05543-3
PMCID: PMC7066089

Genes

CHEK2
ATM
BRCA2
NBN
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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