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Article

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer discovery - 1 Feb 2015

Sawyer Sarah L, Tian Lei, Kähkönen Marketta, Schwartzentruber Jeremy, Kircher Martin, Majewski Jacek, Dyment David A, Innes A Micheil, Boycott Kym M, Moreau Lisa A, Moilanen Jukka S, Greenberg Roger A

Abstract excerpt

UNLABELLED: Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. Bona fide Fanconi anemia proteins, BRCA2 (FANCD1), PALB2 (FANCN), and BRIP1 (FANCJ), interact with BRCA1 during ICL repair. However, the lack of detailed phenotypic and cellular characterization of a patient with biallelic...

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Source

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Identifiers

PMID: 25472942
DOI: 10.1158/2159-8290.CD-14-1156
PMCID: PMC4320660

Genes

BRCA1
BRCA2
BRIP1
PALB2
RAD51

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.PMID 25472942Read ↗

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragilitySemantic proximity Read ↗

Ablation of the Brca1-Palb2 Interaction Phenocopies Fanconi Anemia in Mice.Semantic proximity Read ↗

Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.Semantic proximity Read ↗

Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic TargetsSemantic proximity Read ↗

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.Semantic proximity Read ↗

Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.Semantic proximity Read ↗

Biallelic inactivation of BRCA2 in Fanconi anemia.Semantic proximity Read ↗

PALB2/FANCN: recombining cancer and Fanconi anemia.Semantic proximity Read ↗

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.Semantic proximity Read ↗

RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer.Semantic proximity Read ↗

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.Semantic proximity Read ↗

Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.Semantic proximity Read ↗

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