Table 2.
Six patients with no pathogenic germline variant but with deficient mismatch repair.
| Id | MLH1 | MSH2 | MSH6 | PMS2 | HYP | BRAF | Gene | Variant (c.) | Variant (p.) | FDR | Sex | HIS | TL | UICC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2.1 | L | N | N | L | NEG | NA | MLH1 | c.1996T > C | p.(Tyr721His) | NA | F | AC | RS | II |
| 2.2 | N | N | N | L | NR | NR | RNF43 | c.989G > A | p.(Arg330Gln) | NA | M | MUC | LS | IV |
| 2.3 | N | L | L | N | NR | NR | MSH3 | c.2732T > G | p.(Leu911Trp) | No | F | MUC | LS | I |
| 2.4 | L | N | N | L | NA | NEG | PMS2 | c.857A > G | p.(Asp286Gly) | No | M | MED | LS | II |
| 2.5 | L | N | N | L | NA | NA | NA | M | AC | LS | III | |||
| 2.6 | L | N | NA | NA | NA | NA | MSH2 | c.1275A > G | p.(Glu425=) | No | F | SRC | SY | IV |
Abbreviations: HYP = Hypermethylation of MLH1; BRAF = BRAF mutation; VUS = Variant of uncertain significance; FDR = First degree relative; HIS = Histology; TL = Tumor localization; UICC = Union for International Cancer Control; L = Loss of expression; N = Normal expression; NEG = Negative; NA = Not available; NR = Not relevant; F = Female; M = Male; AC = Adenocarcinoma; SRC = Signet ring cell carcinoma; MUC = Mucinous adenocarcinoma; MED = Medullary adenocarcinoma; RS = Right-sided; LS = Left-sided; SY = Synchronous. The Locus Reference Genomic (LRG) records used for reporting sequence variants with clinical implications: MLH1 (LRG_216), RNF43 (LRG_1026), MSH3 (RefSeq NM_002439.5), PMS2 (LRG_161), MSH2 (LRG_218)