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Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.

Cancer reports (Hoboken, N.J.) - 1 Aug 2025

Sulkava Sonja, Hakonen Anna H, Christensen Rikke, Pöyhönen Minna, Nevanlinna Heli

Abstract excerpt

BACKGROUND: Biallelic FANCM variants are linked to a Fanconi anemia-like cancer predisposition syndrome, which includes early onset breast cancer, chemotherapy toxicity, and chromosome fragility. Additionally, heterozygous truncating variants have been linked to increased breast cancer risk. However, the published results have been inconsistent, and the risks and the functional effects associated with the...

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Identifiers

PMID: 40832744
DOI: 10.1002/cnr2.70283
PMCID: PMC12365610

Genes

FANCM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

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Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.PMID 40832744Read ↗

Homozygous FANCM variant c.5101C>T p.(Gln1701*) in a patient with early onset breast cancer, chemotherapy toxicity, and chromosome fragilitySemantic proximity Read ↗

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

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.Semantic proximity Read ↗

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.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 ↗

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

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.Semantic proximity Read ↗

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.Semantic proximity Read ↗

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.Semantic proximity Read ↗

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

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Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragilitySemantic proximity Read ↗

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