HIGHLIGHTS
SUMMARY
Germline carriers of biallelic pathogenic variants in the MUTYH gene are almost certain to develop CRC, although monoallelic carriers of a MUTYH pathogenic variant may have only a small increased risk of CRC14. Current indications for germline testing for MUTYH include >20 colonic adenomas, although the phenotype has been described as variable where some biallelic MUTYH carriers develop CRC without the associated polyposis, suggesting biallelic MUTYH carriers may be missed with this current approach15. The pathogenic variants and clinicopathological characteristics of each of the 19 CRCs from biallelic MUTYH carriers are detailed in Supplementary . . .
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