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Article

Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.

Mutation research. Reviews in mutation research - 1 Jan 2025

Figlioli Gisella, Billaud Amandine, Peterlongo Paolo

Abstract excerpt

The FANCM gene is involved in the Fanconi Anemia (FA) DNA repair pathway. Although germline biallelic pathogenic variants in genes of this pathway cause the recessive FA syndrome, the role of FANCM in FA or FA-like has been questioned. Biallelic FANCM protein truncating variants (PTVs) have been primarily linked to infertility and cancer, suggesting the gene causes a clinically distinct phenotype. Four literature...

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Identifiers

PMID: 40818381
DOI: 10.1016/j.mrrev.2025.108559

Genes

FANCM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.PMID 40818381Read ↗

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.Semantic proximity Read ↗

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerSemantic proximity Read ↗

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.Semantic proximity Read ↗

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.Semantic proximity Read ↗

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.Semantic proximity Read ↗

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[Homozygous Variant of FANCM of the Fanconi Anemia Pathway Causes Premature Ovarian Insufficiency: Investigation of the Pathogenic Mechanism].Semantic proximity Read ↗

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