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Article

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

Cancer discovery - 1 Apr 2013

Domchek Susan M, Tang Jiangbo, Stopfer Jill, Lilli Dana R, Hamel Nancy, Tischkowitz Marc, Monteiro Alvaro N A, Messick Troy E, Powers Jacquelyn, Yonker Alexandria, Couch Fergus J, Goldgar David E, Davidson H Rosemarie, Nathanson Katherine L, Foulkes William D, Greenberg Roger A

Abstract excerpt

UNLABELLED: BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and...

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Source

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Identifiers

PMID: 23269703
DOI: 10.1158/2159-8290.CD-12-0421
PMCID: PMC3625496

Genes

BRCA1
BRCA2

Variants

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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