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Article

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2015

Maxwell Kara N, Wubbenhorst Bradley, D'Andrea Kurt, Garman Bradley, Long Jessica M, Powers Jacquelyn, Rathbun Katherine, Stopfer Jill E, Zhu Jiajun, Bradbury Angela R, Simon Michael S, DeMichele Angela, Domchek Susan M, Nathanson Katherine L

Abstract excerpt

PURPOSE: Clinical testing for germ-line variation in multiple cancer susceptibility genes is available using massively parallel sequencing. Limited information is available for pretest genetic counseling regarding the spectrum of mutations and variants of uncertain significance in defined patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25503501
DOI: 10.1038/gim.2014.176
PMCID: PMC4465412

Genes

BRCA1
MUTYH
ATM
CHEK2
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25503501-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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