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Article

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Journal of medical genetics - 1 Jan 2007

Alter Blanche P, Rosenberg Philip S, Brody Lawrence C

Abstract excerpt

Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1. We analysed the severity of the mutations in 27 cases, classified according to their association with breast cancer in heterozygotes, and their predicted functional effect. Twenty mutations were frameshifts or truncations, three involved splice sites, five were missense variants of unknown severity and two were benign polymorphisms. Five...

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Identifiers

PMID: 16825431
DOI: 10.1136/jmg.2006.043257
PMCID: PMC2597904

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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