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Article

Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene.

American journal of medical genetics - 15 Jun 2001

Ganguly A, Citron M, Godmilow L, Ahrens M, Ganguly T

Abstract excerpt

Germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, predispose individuals to early onset breast and ovarian cancer. The frequency of mutations in these genes in the general population is very low. Therefore, the prior probability of finding any family with mutations in both genes is even lower. This study reports the presence of two mutations, one in BRCA1 and a second in BRCA2, in a...

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Source

Identifiers

PMID: 11391658
DOI: 10.1002/1096-8628(20010615)101:2<146::aid-ajmg1342>3.0.co;2-e

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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