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Article

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

JAMA - 22 Mar 2006

Walsh Tom, Casadei Silvia, Coats Kathryn Hale, Swisher Elizabeth, Stray Sunday M, Higgins Jake, Roach Kevin C, Mandell Jessica, Lee Ming K, Ciernikova Sona, Foretova Lenka, Soucek Pavel, King Mary-Claire

Abstract excerpt

CONTEXT: Genetic testing for inherited mutations in BRCA1 and BRCA2 has become integral to the care of women with a severe family history of breast or ovarian cancer, but an unknown number of patients receive negative (ie, wild-type) results when they actually carry a pathogenic BRCA1 or BRCA2 mutation. Furthermore, other breast cancer genes generally are not evaluated. OBJECTIVE: To determine the frequency and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16551709
DOI: 10.1001/jama.295.12.1379

Genes

BRCA1
BRCA2
CHEK2
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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