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Article

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Nature genetics - 1 Nov 2006

Seal Sheila, Thompson Deborah, Renwick Anthony, Elliott Anna, Kelly Patrick, Barfoot Rita, Chagtai Tasnim, Jayatilake Hiran, Ahmed Munaza, Spanova Katarina, North Bernard, McGuffog Lesley, Evans D Gareth, Eccles Diana, Easton Douglas F, Stratton Michael R, Rahman Nazneen

Abstract excerpt

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi...

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Identifiers

PMID: 17033622
DOI: 10.1038/ng1902

Genes

BRIP1
BRCA1
BRCA2

Provenance

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Related research

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Research trail→

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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.PMID 17033622Read ↗

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.Semantic proximity Read ↗

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.Semantic proximity Read ↗

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility.Semantic proximity Read ↗

Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.Semantic proximity Read ↗

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.Semantic proximity Read ↗

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.Semantic proximity Read ↗

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.Semantic proximity Read ↗

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

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.Semantic proximity Read ↗

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