Table 2.
Prevalence of Lynch syndrome by cancer type and MSI status [8]
| Cancer type | Total | MSI-H/I (%) | %MSI-H/I Lynch |
|---|---|---|---|
| Total count | 15,045 | 326 (2.2%) | 53 (16.3%, 0.35%) |
| Colorectal | 826 | 137 (16.5%) | 26 (19.0%, 3.1%) |
| Endometrial | 525 | 119 (22.7%) | 7 (5.9%, 1.3%) |
| Small bowel | 57 | 17 (29.8%) | 2 (11.8%, 3.5%) |
| Gastric | 211 | 13 (6.1%) | 2 (15.4%, 0.9%) |
| Esophageal | 205 | 16 (7.8%) | 0 (0%, 0%) |
| Bladder/urothelial | 551 | 32 (5.8%) | 12 (37.5%, 2.2%) |
| Adrenal | 44 | 19 (43.1%) | 2 (10.5%, 4.5%) |
| Prostate | 1048 | 54 (5.1%) | 3 (5.6%, 0.29%) |
| Germ cell | 368 | 33 (9.0%) | 1 (3.0%, 0.27%) |
| Soft tissue sarcoma | 785 | 45 (5.7%) | 2 (4.4%, 0.25%) |
| Pancreatic | 824 | 34 (4.1%) | 5 (14.7%, 0.61%) |
| Mesothelioma | 165 | 6 (3.6%) | 1 (16.7%, 0.61%) |
| CNS tumors | 923 | 30 (3.3%) | 1 (3.3%, 0.11%) |
| Ovarian | 343 | 46 (13.4%) | 0 (0%, 0%) |
| Lung | 1952 | 94 (4.8%) | 0 (0%, 0%) |
| Renal cell | 458 | 11 (2.4%) | 0 (0%, 0%) |
| Breast | 2371 | 150 (6.3%) | 0 (0%, 0%) |
| Melanoma | 573 | 25 (4.3%) | 1 (4.0%, 0.17%) |
| Other cancer typeb | 2816 | 144 (5.1%) | 0 (0%, 0%) |
MSI-I MSI-indeterminate
bOther cancer type includes less common tumors, the majority of which were ampullary carcinoma, anal carcinoma, appendiceal carcinoma, osteosarcoma, peripheral nerve sheath tumor, choriocarcinoma, cervical cancer, neuroendocrine tumor, neuroblastoma, thymic tumor, pheochromocytoma, vaginal carcinoma, Wilms tumor, cancer of unknown primary, head and neck cancer, hepatocellular carcinoma, cholangiocarcinoma, chondrosarcoma, Ewing sarcoma, non-Hodgkin lymphoma, leukemia, and retinoblastoma