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Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

30 Nov 2022

Abstract excerpt

Fanconi anaemia (FA), a model syndrome of genome instability, is caused by a deficiency in DNA interstrand crosslink repair resulting in chromosome breakage1–3. The FA repair pathway protects against endogenous and exogenous carcinogenic aldehydes4–7. Individuals with FA are hundreds to thousands fold more likely to develop head and neck (HNSCC), oesophageal and anogenital squamous cell carcinomas8 (SCCs)....

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PMID: 36450981
DOI: 10.1038/s41586-022-05253-4

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