Table 2. Detailed characteristics of the six patients with synchronous/metachronous endometrial and colorectal cancers accompanied by loss of MMR proteins and diagnosed with Lynch syndrome.
| Patient identifier | Age at cancer diagnosis (yr) | Family history | Disease stage | Loss of MMR proteins | Germline pathogenic/likely pathogenic mutations or epimutations | |||
|---|---|---|---|---|---|---|---|---|
| EC | CRC | EC | CRC | EC | CRC | Blood or non-tumor tissue specimens | ||
| #9 | 71 | 60 | Yes | IIIC1 | IIA | MLH1, PMS2 | MLH1, PMS2 | MLH1 (p.Q346H) |
| #21* | 53 | 71 | Yes | II | IIB | MLH1, PMS2 | MLH1, PMS2 | MLH1 (p.R497Pfs*6) |
| #28 | 59 | 52 | Yes | IA | IIIA | MLH1, PMS2 | MLH1, PMS2 | MLH1 (p.T117M) |
| #5 | 55 | 57 | Yes | IA | IIIC | MSH2, MSH6 | MSH2, MSH6 | MSH2 (splicing:c.1076+1G>T) |
| #22 | 55 | 55 | Yes | IA | IIB | MSH2, MSH6 | MSH2, MSH6 | MSH2 (p.R227Kfs*3) |
| #31 | 55 | 56 | Yes | IA | I | MSH6 | MSH6 | MSH6 (p.G685D) |
| #15† | 60 | 65 | Yes | IA | IIIB | MLH1, PMS2 | MLH1, PMS2 | MLH1 promoter hypermethylation |
CRC, colorectal cancer; EC, endometrial cancer; MMR, mismatch repair.
*Patient also diagnosed with gastric cancer.
†Patient also diagnosed with liver cancer.