Genetic predisposition to colorectal cancer: Where we stand and future perspectives

Table 4 Clinical characteristics of individuals with suspected MUYTH-associated polyposis

Clinical characteristics
One to ten colonic adenomas before 40 yr of age
Tens to hundreds of colonic adenomas and/or hyperplastic polyps
Colonic polyposis (i.e., > 100 colonic polyps) in the absence of a germline APC mutation
Colorectal cancer with the somatic KRAS mutation c.34G>T in codon 12
Family history of colon cancer (with or without polyps) consistent with autosomal recessive inheritance

The definitive diagnosis is confirmed by the presence of a biallelic MUTYH mutation. APC: Adenomatous polyposis coli.