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Article

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.

Cancer research - 15 Dec 2003

Seal Sheila, Barfoot Rita, Jayatilake Hiran, Smith Paula, Renwick Anthony, Bascombe Linda, McGuffog Lesley, Evans D Gareth, Eccles Diana, Easton Douglas F, Stratton Michael R, Rahman Nazneen

Abstract excerpt

Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer. FA has eight known complementation groups and is caused by mutations in at least seven genes. Biallelic BRCA2 mutations were shown recently to cause FA-D1. Monoallelic (heterozygous) BRCA2 mutations confer a high risk of breast cancer and are a major...

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Source

Identifiers

PMID: 14695169

Genes

BRCA2
FANCA
FANCE
BRCA1
FANCC
FANCD2
FANCF
FANCG

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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Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.PMID 14695169Read ↗

Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.Semantic proximity Read ↗

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Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.Semantic proximity Read ↗

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.Semantic proximity Read ↗

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.Semantic proximity Read ↗

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Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.Semantic proximity Read ↗

Investigation of FANCD2 in triple negative breast cancerSemantic proximity Read ↗

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