Table 2.
Characteristics of CRC patients with germline pathogenic MLH1 variants.
| No. | Sex | Age (y) | Germline MLH1 mutation | Mutation significance | Tumor location | Family history | Fulfillment of the revised Bethesda criteria |
|---|---|---|---|---|---|---|---|
| 1 | F | 62 | MLH1:c.793C>T (p.Arg265Cys) | Pathogenic | Ascending colon | Colon | N |
| 2 | M | 52 | MLH1:c.677G>A (p.Arg226Gln) | Pathogenic | Rectum | Breast, colon, ovary, endometrium | Y |
| 3 | F | 69 | MLH1:c.2179_2182del (p.His727fs) | Pathogenic | Ascending colon | Colon, endometrium | Y |
| 4 | M | 52 | MLH1:c.883A>G (p.Ser295Gly) | Pathogenic | Ascending colon | Stomach, colon | Y |
| 5 | M | 32 | MLH1:c.1845_1847del (p.615_616del) | Pathogenic | Transverse colon | Colon | Y |
| 6 | F | 34 | MLH1:c.678–2del (splicing) | Likely pathogenic | Sigmoid colon | Colon | Y |
CRC: colorectal cancer, F: female, M: male.