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Serrated polyposis syndrome, which is characterized by the appearance of hyperplastic polyps, appears to have a familial component, but the genetic basis remains unknown. Many of these syndromes are also associated with extracolonic cancers and other manifestations. Other CRC syndromes and their associated genes include oligopolyposis ( POLE, POLD1), NTHL1, juvenile polyposis syndrome ( BMPR1A, SMAD4), Cowden syndrome ( PTEN), and Peutz-Jeghers syndrome ( STK11). Hereditary CRC has two well-described forms: (1) polyposis (including familial adenomatous polyposis and attenuated FAP, which are caused by pathogenic variants in the APC gene and MUTYH-associated polyposis, which is caused by pathogenic variants in the MUTYH gene) and (2) Lynch syndrome (often referred to as hereditary nonpolyposis colorectal cancer), which is caused by germline pathogenic variants in DNA MMR genes ( MLH1, MSH2, MSH6, and PMS2) and EPCAM. Individuals with a quantified risk of 2.5% or greater on PREMM5 or 5% or greater on MMRpro and MMRpredict are recommended for genetic evaluation referral and testing. These include the MMRpro, MMRpredict, and PREMM5 (PREdiction Model for gene Mutations) prediction models. Hereditary CRC is most commonly inherited in an autosomal dominant pattern, although two syndromes are inherited in an autosomal recessive pattern ( MUTYH-associated polyposis and NTHL1).Īt least three validated computer models are available to estimate the probability that an individual affected with cancer carries a pathogenic variant in a mismatch repair (MMR) gene associated with Lynch syndrome, the most common inherited CRC syndrome.

Factors suggestive of a genetic contribution to CRC include the following: (1) a strong family history of CRC and/or polyps (2) multiple primary cancers in a patient with CRC (3) the existence of other cancers within the kindred consistent with known syndromes causing an inherited risk of CRC, such as endometrial cancer and (4) early age at diagnosis of CRC.

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