Clin Colon Rectal Surg 2016; 29(03): 185-195
DOI: 10.1055/s-0036-1584290
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Familial Colorectal Cancer: Understanding the Alphabet Soup

Matthew D. Giglia
1   Division of Gastrointestinal Surgery, University of Alabama at Birmingham, Birmingham, Alabama
,
Daniel I. Chu
1   Division of Gastrointestinal Surgery, University of Alabama at Birmingham, Birmingham, Alabama
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
17. August 2016 (online)

Preview

Abstract

While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC. These new findings have enhanced our ability to identify at-risk patients, initiate better surveillance, and take preventative measures. Given the large number of genes now associated with hereditary and familial CRCs, clinicians should be familiar with the alphabet soup of genes to provide the highest quality of care for patients and families.