Table 2. Mechanisms of two-hit inactivation of MMR genes in LS tumors.
Germline mutation + LOH | Germline mutation + somatic point mutation | No obvious second hit | ND | |
---|---|---|---|---|
Colorectal adenoma (n = 11) | 9 | 2 | 0 | 0 |
Colorectal carcinoma (n = 18) | 9 | 6 | 2 | 1 |
Ovarian carcinoma (n = 16) | 7 | 3 | 1 | 5 |
Mutations that had the possibility of being pathogenic (pathogenic, likely pathogenic, or pathogenicity unknown) were considered (please see Supplementary Table 1 for pathogenicity class for each mutation).
ND, not determined.