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Article

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Bogliolo Massimo, Bluteau Dominique, Lespinasse James, Pujol Roser, Vasquez Nadia, d'Enghien Catherine Dubois, Stoppa-Lyonnet Dominique, Leblanc Thierry, Soulier Jean, Surrallés Jordi

Abstract excerpt

PurposeMutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia (FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene. Here we report three individuals with biallelic FANCM truncating mutations who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28837157
DOI: 10.1038/gim.2017.124

Genes

FANCM
FANCD2
FANCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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