Table 3. Detailed characteristics of the five patients with synchronous/metachronous endometrial and colorectal cancers without loss of MMR proteins who harbored germline genetic variants.
| Patient identifier | Age at cancer diagnosis (yr) | Family history | Disease stage | MSI | Gene mutations | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| EC | CRC | EC | CRC | EC | CRC | EC | CRC | Germline | ||
| #2* | 45 | 41 | Yes | IA | IIIB | MSS | MSI-H | MSH6 (p.Y427D) | MSH6 (p.Y427D) | MSH6 (p.Y427D) |
| MSH6 (p.F1088Lfs*5) | MSH6 (p.R495X) | |||||||||
| #3* | 65 | 69 | Yes | IB | IIIA | MSS | MSS | NP | NP | MSH6 (p.A1320Efs*7) |
| #14* | 72 | 72 | Yes | IA | IIB | MSS | MSI-H | NP | NP | MSH6 (p.F432L) |
| #18† | 60 | 59 | Yes | IB | IIC | MSS | MSS | NP | NP | MLH1 (p.L259S) |
| #24† | 55 | 58 | Yes | IA | IIB | MSS | MSS | NP | NP | MLH1 (p.Q701K) |
CRC, colorectal cancer; EC, endometrial cancer; MMR, mismatch repair; MSI, microsatellite instability; MSI-H, microsatellite instability-high; MSS, microsatellite stable; NP, not performed.
*Patient diagnosed with Lynch syndrome.
†Presence of non-pathogenic variants.