Genetic & Genomic MedicinemedRxivPreprint
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
Romy Walker, Jihoon Eric Joo, Khalid Mahmood…·Peter Georgeson
The paper shows adenomas from individuals with biallelic MUTYH or NTHL1 variants have mutational signatures similar to CRCs, suggesting adenomas can be used for variant classification and cancer prevention.
DOI 10.1101/2024.08.08.24311713