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Article

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

BMC cancer - 15 May 2007

Frank Bernd, Hemminki Kari, Meindl Alfons, Wappenschmidt Barbara, Sutter Christian, Kiechle Marion, Bugert Peter, Schmutzler Rita K, Bartram Claus R, Burwinkel Barbara

Abstract excerpt

BACKGROUND: Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC). METHODS: We investigated the effect of BRIP1 -64G>A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing BRCA1/BRCA2 mutation-negative...

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Source

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Identifiers

PMID: 17504528
DOI: 10.1186/1471-2407-7-83
PMCID: PMC1887536

Genes

BRIP1
BRCA1
BACH1
BRCA2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.PMID 17504528Read ↗

Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy.Semantic proximity Read ↗

Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis.Semantic proximity Read ↗

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

Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.Semantic proximity Read ↗

Breast cancer genes: beyond BRCA1 and BRCA2.Semantic proximity Read ↗

BACH1 Ser919Pro variant and breast cancer risk.Semantic proximity Read ↗

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

Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.Semantic proximity Read ↗

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

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.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 ↗

Genetic and molecular analyses of candidate germline<i>BRIP1/FANCJ</i>variants implicated in breast and ovarian cancerSemantic proximity Read ↗

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