Book Chapter

Early-Age-of-Onset Colorectal Carcinoma: An Emerging Public Health Issue

Aung Ko Win, Garrett Friedman, Jose Guillem

Management of Hereditary Colorectal Cancer: A Multidisciplinary Approach | Springer Nature | Published : 2020

Abstract

The etiology of colorectal cancer (CRC) is complex and appears to involve a combination of underlying genetic susceptibility, somatic alterations, and environmental exposures which people experience since conception. Young age at diagnosis is a hallmark of hereditary cancer syndromes as discussed in the chapters that follow. Currently known genetic predispositions to CRC include Lynch syndrome (caused by germline mutations in DNA mismatch repair genes), familial adenomatous polyposis (due to APC mutations), MUTYH-associated polyposis (due to mutations in both alleles of MUTYH gene), and germline mutations in other genes such as SMAD4, BRCA1, TP53, POLE, and POLD1. However, only 20–30% of CRC..

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