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Table 1 Inherited Predispositions to Colorectal Cancer

From: Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes

Syndromes with preexisting polyposis
Disease Gene Disease Phenotype
Familial Adenomatous Polyposis APC colonic polyposis
Gardner's Syndrome APC colonic polyposis in association with extra colonic lesions
Oldfield's Syndrome APC colonic polyposis in association with sebaceous cysts
Turcot's Syndrome* APC malignant tumors of the central nervous system in association with polyposis of the colon
Syndromes with preexisting hamartomatous polyps
Peutz-Jeghers syndrome LKB1/STK11 abnormal pigmentation on the lips and buccal mucosa
Ruvalcaba-Myhre-Smith syndrome (Bannayan-Riley-Ruvalcaba Syndrome) Unknown macrocephaly, pigmented macules on the penis
Juvenile polyposis SMAD4 (DPC) cystic hamartomatous polyps
Cowden's syndrome PTEN multiple hamartomatous lesions, primarily on the mucocutaneous tissue)
Syndromes without preexisting polyposis
Hereditary non-polyposis colorectal cancer
(Lynch Type I and Type II syndromes)
hMSH2
hMLH1
hPMS1
hPMS2
hMSH6
few if any polyps, CRC tends to be site specific
Muir-Torre's Syndrome# hMSH2 Lynch type II syndrome with dermatological lesions and laryngeal cancer
Turcot's Syndrome* hMSH2
hMLH1
Glioblastoma Multiforme Astrocytoma grades 3 or 4
  1. *Turco'ts Syndrome is a special case, see below.