Table 1 .
Estimated cancer risk
| Syndrome | Site of cancer | Cumulative lifetime risk or frequency among carriers | Age of debut |
|---|---|---|---|
| Peutz-Jeghers Syndrome [2] | Colon/rectum | 39% | 42-46y |
| Stomach | 29% | 30-40y | |
| Small bowel | 13% | 37-42y | |
| Breast | 32–54% | 37-59y | |
| Ovarian | 21% | 28y | |
| Cervix (adenoma malignum) | 10% | 34-40y | |
| Uterus | 9% | 43y | |
| Pancreas | 11–38% | 41–52y | |
| Testicular (sertoli cell tumour) | 9% | 6-9y | |
| Lung | 7–17% | 47y | |
| Juvenile Polyposis Syndrome | Colon/rectum | 38% [3] | 36.0 (48) (median) |
| Gastric | 21% [2] | 44.0 (48) | |
| POLE-associated polyposis [4] | Colon/rectum | 28% (M), 21%(F) For p.Leu424VAL: 97% (M), 92% (F) | 50.2 (49) (mean) |
| Uterus | ? | ||
| Ovaries | ? | ||
| Pancreas | ? | ||
| Malignant melanoma | ? | ||
| POLD1-associated polyposis [4] | Colon/rectum | 90% (M), 82% (F) | 39.7 (49) (median) |
| Uterus | ? | ? | |
| Breast cancer | ? | ? | |
| Ovarian | ? | ? | |
| Lymphoma | ? | ? | |
| Bladder | ? | ? | |
| AXIN2-associated polyposis | Colon/rectum | 13/35 individuals | 36–80+ |
| MUTYH- associated polyposis [5] | Colon/rectum | 80–90% | 48.0 (median) |
| Duodenum | 4% | 61.0 | |
| Ovaries | 6–14% | 51.0 | |
| Bladder | 6–8% (females), 6–25% males) | 61.0 | |
| Melanoma | ? | ? | |
| Breast | ? | ? | |
| Uterus | 3% | 51.0 | |
| NTHL1-associated polyposis [6] | Colon/rectum | 16/29 individuals | 61.0 median, (33-73y) |
| Breast | 9/15 female individuals | 48.5 (38-63y) | |
| Uterus | 5/15 Uterus (precancerous and cancerous) | 57.0 (6–74 y). | |
| Duodenum | ? | ||
| CMMRD [7] | Colon/rectum | 59/146 individuals | 8-48y |
| Duodenum | 18/149 individuals | 11-42y | |
| Hematologic malignancies | ? | ¿ | |
| brain tumors | ¿ | ||
| GREM1-associated mixed polyposis | CRC | ? | ? |
| Serrated Polyposis Syndrome [8] | CRC | 15–35%. | 53.9 (median) |