Table 2.
Detailed data of the six patients with LOE of MMR proteins
| Nr | Sex | Age(years) | Site | Size | Pathology | Pattern of MMR protein loss | Mutation | Amino acid change | Clinical significance of mutation | Family history of cancer |
|---|---|---|---|---|---|---|---|---|---|---|
| 1. | F | 45 | rectum | 1 .2cm | tubulovillous adenoma with high-grade dysplasia | MSH2MSH6 | MSH6 deletion of exon7 | unknown | possibly pathogenicity | No tumors in first- or second-degree |
| 2. | F | 65 | sigmoid colon | 0.6 cm | tubular adenoma with low-grade dysplasia | MSH2 | negative | NA | NA | No tumors in first- or second-degree |
| 3. | M | 58 | transverse colon | 3 cm | tubular adenoma with high –grade dysplasia | MLH1PMS2 | Not detected | NA | NA | unknown |
| 4. | M | 48 | rectum | 1 .5cm | tubular adenoma,malignant | MSH2 | c.181C > T (NM_000251.2) | p.Gln61Ter | pathological | No tumors in first- or second-degree |
| 5. | M | 48 | transverse colon | 0 .8cm | tubular adenoma with low -grade dysplasia | MSH2MSH6 | MSH2c.842C > G (NM_000251.2) | p.Ser281Ter | pathological | Father died of colon cancer at the age of 58;two uncles with colon cancer |
| 6. | M | 39 | ascending colon | 3 .5cm | tubular adenoma with low–grade dysplasia | MSH2 | c.1168C > T (NM_000251.2) | p.Leu390Phe | benign variant | Four uncles with colorectal cancer |