Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

doi:10.1200/JCO.2002.20.6.1480

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Article

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 15 Mar 2002

Frank Thomas S, Deffenbaugh Amie M, Reid Julia E, Hulick Mark, Ward Brian E, Lingenfelter Beth, Gumpper Kathi L, Scholl Thomas, Tavtigian Sean V, Pruss Dmitry R, Critchfield Gregory C

Abstract excerpt

PURPOSE: To assess the characteristics that correlate best with the presence of mutations in BRCA1 and BRCA2 in individuals tested in a clinical setting. PATIENTS AND METHODS: The results of 10,000 consecutive gene sequence analyses performed to identify mutations anywhere in the BRCA1 and BRCA2 genes (7,461 analyses) or for three specific Ashkenazi Jewish founder mutations (2,539 analyses) were correlated with...

Topics

Adult
BRCA2 Protein
Breast Neoplasms
Breast Neoplasms, Male
Chi-Square Distribution
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genetic Testing

Germ-Line Mutation

Humans

Jews

Male

Neoplasm Proteins

Ovarian Neoplasms

Risk Factors

Source

Open in PubMed

Identifiers

PMID: 11896095
DOI: 10.1200/JCO.2002.20.6.1480

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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