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Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Familial cancer - 1 Jul 2017

Feben Candice, Spencer Careni, Lochan Anneline, Laing Nakita, Fieggen Karen, Honey Engela, Wainstein Tasha, Krause Amanda

Abstract excerpt

Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1)...

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Source

Identifiers

PMID: 28185119
DOI: 10.1007/s10689-017-9968-y

Genes

BRCA2

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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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