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Article

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

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Jul 2008

De Nicolo Arcangela, Tancredi Mariella, Lombardi Grazia, Flemma Cristina Chantal, Barbuti Serena, Di Cristofano Claudio, Sobhian Bijan, Bevilacqua Generoso, Drapkin Ronny, Caligo Maria Adelaide

Abstract excerpt

PURPOSE: BRCA1-interacting protein 1 (BRIP1; FANCJ/BACH1), which encodes a DNA helicase that interacts with BRCA1, has been suggested to be a low-penetrance breast cancer predisposing gene. We aimed to assess whether BRIP1 mutations contribute to breast cancer susceptibility in our population and, if so, to investigate the effect of such mutation(s) on BRIP1 function. EXPERIMENTAL DESIGN: A series of 49...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18628483
DOI: 10.1158/1078-0432.CCR-08-0087
PMCID: PMC2561321

Genes

BRIP1
BRCA1
BACH1
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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