Table 2:
Cancer Spectrum in Lynch Syndrome Patients with P/LP Variants in MSH6 and PMS2
| MSH6 | PMS2 | |||
|---|---|---|---|---|
| Cancer | Overall (N=160) | MMR-D/MSI-H (N=77) | Overall (N=101) | MMR-D/MSI-H (N=45) |
| Colorectal (CRC) | 47 (29%) | 33 (43%) | 31 (31%) | 23 (51%) |
| Endometrial (EC) | 41 (26%) | 25 (32%) | 12 (12%) | 10 (23%) |
| Breast | 13 (8%) | 1 (1%) | 13 (13%) | 0 |
| Prostate | 11 (7%) | 1 (1%) | 3 (3%) | 1 (2%) |
| Urothelial (UC) | 5 (3%) | 4 (5%) | 2 (2%) | 1 (2%) |
| Pancreas/Biliary (PB) | 5 (3%) | 3 (4%) | 7 (7%) | 1 (2%) |
| Sarcoma | 2 (1%) | 0 | 0 | 0 |
| Gastric/Esophageal (GEJ) | 5 (3%) | 3 (4%) | 1 (1%) | 0 |
| Ovary (OC) | 5 (3%) | 2 (3%) | 12 (12%) | 4 (9%) |
| Lymphoma | 3 (2%) | 0 | 0 | 0 |
| Melanoma | 4 (3%) | 0 | 0 | 0 |
| CNS/Brain | 1 (1%) | 1 (1%) | 4 (4%) | 0 |
| Small Bowel (SB) | 1 (1%) | 1 (1%) | 5 (5%) | 5 (11%) |
| Skin Tumors, Non-melanoma | 6 (4%) | 3 (4%) | 5 (5%) | 0 |
| Kidney | 2 (1%) | 0 | 1 (1%) | 0 |
| Thyroid | 2 (1%) | 0 | 0 | 0 |
| Testicular/Germ Cell | 1 (1%) | 0 | 1 (1%) | 0 |
| Carcinoma of Unknown Primary | 0 | 0 | 1 (1%) | 0 |
| Lung | 2 (1%) | 0 | 0 | 0 |
| Other | 4 (3%) | 0 | 3 (3%) | 0 |
Table depicts cancer types and distribution for MSH6 and PMS2 heterozygotes, both overall and for MMR-D/MSI-H tumors.