Familial colorectal cancer, beyond Lynch syndrome

Clin Gastroenterol Hepatol. 2014 Jul;12(7):1059-68. doi: 10.1016/j.cgh.2013.08.015. Epub 2013 Aug 17.


Although 30% of individuals diagnosed with colorectal cancer (CRC) report a family history of the disease, only 5% to 6% carry germline mutations in genes associated with known hereditary cancer syndromes. The evaluation and management of families affected with CRC can be complicated by variability in disease phenotypes and limited sensitivity of genetic tests. In this review, we examine what is currently known about familial CRC and what we have yet to learn, and explore how novel genomic approaches might be used to identify additional genetic and epigenetic factors implicated in heritable risk for cancer.

Keywords: Colorectal Cancer; Genetic Counseling; Genetic Testing; Lynch Syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms / therapy*
  • Counseling
  • Family Health*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / therapy*
  • Genetic Testing
  • Humans