Table 5.
Syndrome | Gene | Risk | Average age of diagnosis (years) | References |
---|---|---|---|---|
Sporadic cancer | 4.8% | 69 | SEER(303) | |
Lynch syndrome | MLH1/MSH2 | M: 27–74% F: 22–61% |
27–60 | (30–35,38) |
MSH6 | M: 22–69% F: 10–30% M/F: 12% |
50–63 | (31,36,49,64) | |
PMS2 | M: 20% F: 15% |
47–66 | (37) | |
Familial adenomatous polyposis (FAP) | APC | 100% | 38–41 | (81,123,126,316) |
Attenuated FAP | APC | 69% | 54–58 | (88,90,126,317–319) |
MUTYH-associated polyposis | MUTYH | 43–100% | 48–50 | (109,126,134,135,319) |
Juvenile polyposis |
SMAD4
BMPR1A |
38–68% | 34–44 | (126,220)(320–323) |
Peutz–Jeghers syndrome | STK11 | 39% | 42–46 | (126,196,197) |
Cowden syndrome | PTEN | 9–16% | 44–48 | (224,235,236,324) |
Serrated polyposis syndrome | Not known | ~>50% | 48 | (243,254) |
F, female; M, male.