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Disease
(OMIM) | Gene | Incidence | Inheritance | Mutation identified (%) | Penetrance | Clinical features |
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| Hereditary nonpolyposis colorectal cancer (HNPCC) (114500) | MLH1, MSH2, MSH6, PMS2, MLH3, EPCAM | 1 in 400 | AD | Point mutation, large rearrangements (60–80%) | 90% | Proximal CRC, endometrial carcinoma, ovarian tumors, small bowel carcinoma, urinary tract carcinoma |
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| Classical familial adenomatous polyposis (FAP)(175100) | APC | 1 in 8000 | AD | Point mutation, large rearrangements (80–90%) | <100% | 100 to >500 adenomatous polyps of large bowel, duodenum, stomach |
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| Attenuated FAP (AFAP) (175100) | APC | <1 in 8000 | AD | Point mutation, large rearrangements (20–30%) | <100% | 10 to 100 adenomatous polyps of large bowel, duodenum, stomach |
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| MUTYH-associated polyposis (MAP) (608456) | MUTYH | <1 in 10000 | AR | Point mutation, large rearrangements (15–20%) | <100% | 20 to 100 adenomatous polyps of large bowel, duodenum, stomach |
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| Muir Torre syndrome (HNPCC) (158320) | MLH1, MSH2 | <1 in 400 | AD | Point mutation, large rearrangements (60–80%) | 90% | CRC, endometrial carcinoma multiple sebaceous adenomas, epithelioma, keratoacanthoma |
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| Turcot syndrome (HNPCC) (276300) | APC, PMS2, MLH1 | <1 in 400 | AD | Point mutation, large rearrangements (60–80%) | 90% | CRC, glioblastoma, cerebellar medulloblastoma |
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| Peutz-Jeghers syndrome (PJS) (175200) | STK11 (LKB1) | 1 in 200000 | AD | Point mutation, large rearrangements (90%) | 95–100% | <20 juvenile polyps (PJ) of large bowel, duodenum, stomach, mucocutaneous/perioral hyperpigmentation, ovarian tumors, breast cancer |
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| Juvenile polyposis syndrome (JPS) (174900) | SMAD4, BMPR1A | 1 in 100000 | AD | Point mutation, large rearrangements (60%) | 90–100% | 5 to 100 JP of large bowel, duodenum, stomach, gastric cancer |
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| Cowden syndrome (CS) (158350) | PTEN | 1 in 200000 | AD | Point mutation, large rearrangements (80%) | 90–95% | Multiple JP/lipomas of large bowel, duodenum, stomach, mucocutaneous tumors, breast cancer, endometrial carcinoma, thyroid cancer |
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| Bannayan-Ruvalcaba-Riley syndrome (BRRS) (153480) | PTEN | 1 in 200000 | AD | Point mutation, large rearrangements (60%) | 90–95% | Multiple JP/lipomas of large bowel, duodenum, stomach, microcephaly, developmental delay, hemangiomatosis |
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