Copyright
©The Author(s) 2016.
World J Gastroenterol. Feb 7, 2016; 22(5): 1736-1744
Published online Feb 7, 2016. doi: 10.3748/wjg.v22.i5.1736
Published online Feb 7, 2016. doi: 10.3748/wjg.v22.i5.1736
Table 2 Clinical and molecular features associated with hereditary colorectal cancer syndromes
Hereditary CRC syndrome | Age of presentation | Gene(s) | Clinical features |
Lynch syndrome | Average age of diagnosis of CRC is 42-45 yr | MLH1, MSH2 | Lifetime risk of CRC 70% |
MSH6,PMS2,EPCAM | Risk of extracolonic cancers | ||
Classic FAP | Average age of diagnosis of CRC is 39 yr | APC | 100-1000 adenomas |
MUTYH (biallelic) | CRC risk 90% without colectomy | ||
Risk of extracolonic cancers | |||
Attenuated FAP | Average age of diagnosis of CRC is 51 yr | APC, MUTYH mutations detected in approximately 10% | 10-99 adenomas |
PJS | Polyps occur during childhood and early adulthood | STK11 | Mucocutaneous pigmentation |
≥ 2 hamartomatous polyps in small bowel | |||
Lifetime cancer risks 80%-90% | |||
JPS | Late childhood or early adolescence | SMAD4, BMPR1A, ENG | > 3-5 juvenile polyps in the gastrointestinal tract |
Congenital cardiac valvular disease and/or atrial and ventricular septal defects | |||
PPAP | Second through fourth decades of life | POLE | Oligo adenomatous polyposis |
POLD1 | Young-onset CRC | ||
Endometrial cancer | |||
Cowden disease | Second and third decades of life | PTEN | Variable CRC risk |
Macrocephaly | |||
Increased risk of thyroid, breast, and endometrial cancer |
- Citation: Ballester V, Rashtak S, Boardman L. Clinical and molecular features of young-onset colorectal cancer. World J Gastroenterol 2016; 22(5): 1736-1744
- URL: https://www.wjgnet.com/1007-9327/full/v22/i5/1736.htm
- DOI: https://dx.doi.org/10.3748/wjg.v22.i5.1736