Table 1.
A list of patient characteristics in 24 young colorectal cancer patients with germline pathogenic variants (PGV). All patients were heterozygous, except patient 1.23 who was compound heterozygous.
| Id | Gene | Variant (c.) | Variant (p.) | MLH1 | MSH2 | MSH6 | PMS2 | FDR | Sex | HIS | TL | UICC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1.1 | MLH1 | c.1276C > T | p.(Gln426Ter) | L | N | N | L | Yes | M | AC | RS | III |
| 1.2 | MLH1 | c.1667 + 2_1667 + 8delinsATTT | L | N | N | L | Yes | F | AC | RS | III | |
| 1.3 | MLH1 | c.2041G > A | p.(Ala681Thr) | L | N | N | L | NA | M | AC | RS | II |
| 1.4 | MLH1 | c.2041G > A | p.(Ala681Thr) | L | N | NA | NA | NA | F | AC | RS | III |
| 1.5 | MLH1 | c.298C > T | p.(Arg100Ter) | N | N | N | N | Yes | M | AC | RS | I |
| 1.6 | MLH1 | c.350C > T | p.(Thr117Met) | L | N | N | L | Yes | F | AC | RS | I |
| 1.7 | MLH1 | c.350C > T | p.(Thr117Met) | L | N | N | L | NA | M | AC | SY | II |
| 1.8 | MLH1 | c.350C > T | p.(Thr117Met) | L | N | N | L | No | F | AC | RS | II |
| 1.9 | MLH1 | c.677 + 3A > T | L | N | N | L | NA | F | AC | LS | II | |
| 1.10 | MLH1 | c.67delG | p.(Glu23Lysfs*13) | L | N | N | L | Yes | F | AC | RS | I |
| 1.11 | MLH1 | c.76C > T | p.(Gln26Ter) | L | N | N | L | Yes | M | MUC | SY | II |
| 1.12 | MSH2 | c.1165C > T | p.(Arg389Ter) | L | L | L | L | Yes | F | AC | RS | II |
| 1.13 | MSH2 | c.1276 + 1G > T | N | L | L | N | Yes | M | AC | SY | II | |
| 1.14 | MSH2 | c.1759 + 2T > G | N | L | L | N | No | M | AC | RE | II | |
| 1.15 | MSH2 | c.1786_1788delAAT | p.(Asn596del) | N | L | L | N | No | F | AC | LS | II |
| 1.16 | MSH2 | c.892C > T | p.(Gln298Ter) | N | L | L | N | Yes | M | SRC | RS | I |
| 1.17 | MSH2 | c.942 + 2dupT | N | L | L | N | No | F | AC | LS | II | |
| 1.18 | MSH2 | c.942 + 6A > T | N | L | L | N | Yes | F | AC | RS | I | |
| 1.19 | MSH6 | c.3261dupC | p.(Phe1088Leufs*5) | N | N | L | N | Yes | M | AC | RS | III |
| 1.20 | PMS2 | c.613C > T | p.(Gln205Ter) | N | N | N | L | No | F | AC | RS | II |
| 1.21 | MUTYH | c.1214C > T | p.(Ala405Val) | N | N | N | N | NA | F | AC | LS | III |
| 1.22 | MUTYH | c.536A > G | p.(Tyr179Cys) | N | N | N | N | Yes | F | AC | LS | IV |
| Multicarrier | ||||||||||||
| 1.23 |
APC
MUTYH MUTYH |
c.1748C > A c.536A > G c.1187G > A |
p.(Ser583Ter) p.(Tyr179Cys) p.(Gly396Asp) |
N | N | N | N | No | F | AC | LS | III |
| 1.24 |
MLH1
MUTYH |
c.1667 + 2_1667 + 8delinsATTT c.1187G > A |
p.(Gly396Asp) | L | N | N | L | Yes | M | MUC | RS | I |
Abbreviations: FDR = First degree relative; HIS = Histology; TL = Tumor localization; UICC = Union for International Cancer Control; L = Loss of expression; N = Normal expression; NA = Not available; F = Female; M = Male; AC = Adenocarcinoma; SRC = Signet ring cell carcinoma; MUC = Mucinous adenocarcinoma; LS = Left-sided, RS = Right-sided, SY = Synchronous; RE = rectum. The Locus Reference Genomic (LRG) records used for reporting sequence variants with clinical implications: MLH1 (LRG_216), MSH2 (LRG_218), PMS2 (LRG_161), APC (LRG_130t1), MUTYH (LRG_220), MSH6 (LRG_219).