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Article

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Blood reviews - 1 May 2017

Mamrak Nicholas E, Shimamura Akiko, Howlett Niall G

Abstract excerpt

Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two...

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Identifiers

PMID: 27760710
DOI: 10.1016/j.blre.2016.10.002
PMCID: PMC5391297

Genes

BMF
BRCA1
RAD51
XRCC2

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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