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

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

ABSTRACT 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....

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Main Authors: Sonja Sulkava, Anna H. Hakonen, Rikke Christensen, Minna Pöyhönen, Heli Nevanlinna
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Cancer Reports
Subjects:
breast cancer
c.5101C>T p.(Gln1701*)
chemotherapy toxicity
chromosome fragility
FANCM gene
gonadal dysfunction
Online Access:https://doi.org/10.1002/cnr2.70283
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https://doi.org/10.1002/cnr2.70283

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