Table 1.
Clinical and-pathological features of the colorectal cancer (CRC) Lynch-like syndrome cohort.
| Patient ID | Cohort | Age of Onset (Years) | Sex | Tumor Location | CRC Relation to Splenic Flexure | Stage | Histological Differentiation | Bethesda Clinical Criteria | MSI Status | MMR Protein Loss | Somatic Braf v600e | Biallelic Somatic Alteration Gene | TMB (Mutations/mb) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LLS02 | Udaondo | 12 | male | rectum | Left | IV | well | 1 | MSI | MSH2/MSH6 | WT | MSH3 | 26.7 |
| LLS06 | Udaondo | 30 | female | ascending colon | Right | IIIA | moderately | 1;5 | MSS | MSH6 | WT | no alteration | 9.4 |
| LLS09 | Udaondo | 30 | female | rectum | Left | IIIA | moderately | 1;5 | MSI | MSH2/MSH6 | WT | MSH3 | 81.2 |
| LLS10 | Udaondo | 25 | female | descending colon | Left | IIB | moderately | 1;3 | MSI | MSH2/MSH6 | WT | MSH3; POLD1 | 118 |
| LLS15 | Udaondo | 19 | male | descending colon | Left | IIA | no data | 1;3 | MSI | MLH1/PMS2 | WT | no alteration | 44.7 |
| LLS17 | Udaondo | 40 | male | descending colon | Left | IIIB | poorly | 1;3 | MSI | MLH1/PMS2 | WT | MLH1 | 77 |
| LLS18 | Udaondo | 30 | female | descending colon | Left | IIA | moderately | 1;3 | MSI | MSH2/MSH6 | WT | MSH2 | 57.8 |
| LLS19 | Udaondo | 25 | female | caecum | Right | IIIA | well | 1;2;3 | MSI | MSH2/MSH6 | WT | no alteration | 163.3 |
| LLS20 | Udaondo | 33 | male | ascending colon | Right | IIIA | moderately | 1 | MSI | MSH2/MSH6 | WT | no alteration | 7.6 |
| LLS21 | Udaondo | 36 | female | descending colon | Left | IIIA | moderately | 1 | MSI | MLH1/PMS2 | WT | MLH1 | 157.7 |
| LLS9049 | Clinic | 31 | female | descending colon | Left | IIIB | moderately | 1 | MSI | MSH2/MSH6 | WT | POLD1 | 164.6 |
| LLS9045 | Clinic | 35 | male | rectum | Left | IIIB | moderately | 1 | MSI | MLH1/PMS2 | WT | MLH1 | 142.4 |
| LLS5159 | Clinic | 37 | female | sigma | Left | IV | poorly | 1;3 | MSI | MLH1/PMS2 | WT | POLD1 | 81.4 |
| LLS5604 | Clinic | 33 | male | caecum | Right | IIIB | poorly | 1;3 | MSI | MLH1/PMS2 | WT | no alteration | 16.3 |
| LLS9048 | Clinic | 30 | male | ascending colon | Right | IIA | poorly | 1;3 | MSI | MLH1 | WT | no alteration | 6.8 |
MMR protein loss by IHC in FFPE slides. TMB as tumor mutational burden measured as all variants found in the WES analysis divided by 30 (mutations/MB). Histological differentiation: well (well differentiated adenocarcinoma), moderately (moderately differentiated adenocarcinoma), poorly (poorly differentiated adenocarcinoma). In bold, LLS19 has one single variant in MSH2 and also a very prevalent mutational signature related to a previous alkylating agent treatment.