Homozygous <i>FANCM</i> Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report
These findings suggest that the C-terminal FANCM variant c. 5101C>T may also be linked to a phenotype similar to the phenotype associated with N-terminal truncating variants when inherited in a homozygous state.
Authors
- Minna Pöyhönen (ORCID: https://orcid.org/0000-0003-2037-2744)
- Anna H. Hakonen (ORCID: https://orcid.org/0000-0001-7533-7124)
- Heli Nevanlinna (ORCID: https://orcid.org/0000-0002-0916-2976)
- Rikke Christensen (ORCID: https://orcid.org/0000-0002-4069-7370)
- Sonja Sulkava (ORCID: https://orcid.org/0000-0002-6938-2620)
Institutions
- University of Helsinki (FI)
- Helsinki University Hospital (FI)
- Aarhus University Hospital (DK)
- Finnish Institute for Health and Welfare (FI)
- Tumour Institute of Tuscany (IT)
- Hospital District of Helsinki and Uusimaa (FI)
Publication Details
- Journal
- Cancer Reports
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/cnr2.70283
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00