Table 2 Genetic variants detected by NGS in case 1 and case 2
From: Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer
Sample | Component | MLH1 | PMS2 | MSH6 | POLE | TP53 |
|---|---|---|---|---|---|---|
Case 1 | TT | K392T | G271S;R134*;T485K | R361H;c.3261dupC | E277G | |
NT | – | R134*;T485K | – | – | ||
Case 2 | TT | E230* | M1R;c.1239delA | R379I;c.3261dupC | R446W | M246L |
NT | – | – | – | – | – |