From APC to the genetics of hereditary and familial colon cancer syndromes.

ABSTRACT: Hereditary colorectal cancer (CRC) syndromes attributable to high penetrance mutations represent 9-26% of young-onset CRC cases. The clinical significance of many of these mutations is understood well enough to be used in diagnostics and as an aid in patient care. However, despite the advances made in the field, a significant proportion of familial and early-onset cases remains molecularly uncharacterized and extensive work is still needed to fully understand the genetic nature of CRC susceptibility. With the emergence of next-generation sequencing and associated methods, several predisposition loci have been unraveled, but validation is incomplete. Individuals with cancer-predisposing mutations are currently enrolled in life-long surveillance, but with the development of new treatments, s

SUBMITTER: Olkinuora AP 

PROVIDER: S-EPMC8490010 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature