Article

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

2024-08-26

Abstract excerpt

not-yet-known not-yet-known not-yet-known unknown 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...

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Literature Corpus work: cbffda90-2af7-5d78-abf7-ff6f32fd91e3
DOI: 10.22541/au.172467184.46910284/v1

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