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Article

Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.

American journal of human genetics - 1 Feb 2001

Thompson D, Easton D

Abstract excerpt

Cancer occurrence in 164 families with breast/ovarian cancer and germline BRCA2 mutations was studied to evaluate the evidence for genotype-phenotype correlations. Mutations in a central portion of the gene (the "ovarian cancer cluster region" [OCCR]) were associated with a significantly higher ratio of cases of ovarian:breast cancer in female carriers than were mutations 5' or 3' of this region (P<.0001),...

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Identifiers

PMID: 11170890
DOI: 10.1086/318181
PMCID: PMC1235274

Genes

BRCA2
RAD51

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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