Table 7.
Cumulative risks of extracolorectal cancer in hereditary colorectal cancer syndromes
| Cancer site | General population riska | Syndrome risk | Average age of diagnosis (years) | References |
|---|---|---|---|---|
| Lynch syndrome | ||||
| Endometrium | ||||
| General population | 2.7% | 65 | SEER (328) | |
| MLH1/MSH2 | 14–54% | 48–54 | (30,31,33,35,36,38) | |
| MSH6 | 16–71% | 53–54 | (31,36,49) | |
| PMS2 | 15% | 49–50 | (37) | |
| Stomach | <1% | 0.2–13% | 49–55 | (31,34,49,53–55,61,63,64) |
| Ovary | 1.4% | 3.4–22% | 42–54 | (31,36–38,49,53–55,63,64,67) |
| Hepatobiliary tract | <1% | 0.02–4% | 54–57b | (31,55,63,67) |
| Urinary tract | <1% | 0.2–25.5% | 52–57 | (31,37,49,53–55,63,64,67) |
| Small bowel | <1% | 0.4–12% | 46–51 | (31,34,53–55,64) |
| Brain/central nervous system | <1% | 1.2–3.7% | 50–55 | (53,55,63,64) |
| Sebaceous neoplasm | <1% | 9%c | 51–54 | (329–331) |
| Pancreas | 1.5% | 0.4–3.7% | 51.5–56.5b | (33,53,271) |
| Prostate | 15.3% | 9–30% | 59–60 | (54,76,332) |
| Breast (female) | 12.3% | 1.5–18% | 46–52 | (53,54,75) |
| Familial adenomatous polyposis(FAP) | ||||
| Small bowel (duodenum/periampullary) | <1% | 3–10% | 44 50–52b |
(81,126,127,138,144,146,316,333) |
| Stomach | <1% | <1% | 49 | (126,138,316) |
| Pancreas | 1.5% | 1.7% | 50b | (126,138,334) |
| Thyroid | 1.1% | 2% | 25–33 | (126,138,171,172,316,334,335) |
| Liver (hepatoblastoma) | <1% | 1–2% | Most often occurs in the first 5 years of life | (126,138,173) |
| Brain/central nervous system | <1% | 1–2% | 15–21 | (126,138,336–338) |
| Attenuated FAP | ||||
| Small bowel (duodenum/periampullary) | <1% | 4–12% | 60 | (90,126) |
| Thyroid | 1.1% | 1–2% | 26 | (90,126) |
| MUTYH-associated polyposis | ||||
| Small bowel (duodenum) | <1% | 4% | 61b | (126,174) |
| Stomach | <1% | 1% | 38b | (126,174) |
| Juvenile polyposis | ||||
| Upper gastrointestinal (GI) cancer (stomach, pancreas, and small bowel) | — | 21%c | 54 | (126,183,321) |
| Peutz–Jeghers syndrome | ||||
| Stomach | <1% | 29% | 30–40 | (196,197) |
| Small bowel | <1% | 13% | 37–42 | (196,197) |
| Pancreas | 1.5% | 11–36% | 41–52 | (194,196,197,339) |
| Breast | 12.4% | 32–54% | 37–59 | (194,196,197) |
| Ovarian (mostly SCTAT (sex cord tumor with annular tubules)) | 1.6% | 21% | 28 | (197) |
| Uterus | 2.7% | 9% | 43 | (196,197) |
| Cervix (adenoma malignum) | <1% | 10% | 34–40 | (197,340) |
| Testicular (Sertoli cell tumor) | <1% | 9% | 6–9 | (196,197) |
| Lung | 6.9% | 7–17% | 47 | (194,196,197) |
| Cowden syndrome | ||||
| Breast | 12.4% | 25–85% | 38–46 | (184,235,236,341–343) |
| Thyroid | 1.1% | 3–38% | 31–38b | (184,235,236,342–345) |
| Endometrium | 2.7% | 5–28% | 25d | (184,228,235,236) |
| Kidney (renal cell) | 1.6% | 15–34% | 40d | (183,224,225,235,346,347) |
| Melanoma | 2 | 6% | 3e | (183,224,225,235,346,347) |