Table 3 Germline and somatic mutations of MMR genes.
Patient ID | Age | Stage | Histological subtype | Gene | Class | Refseq ID | Nucleotide change | Amino acid change | HR-associated gene mutation | |
|---|---|---|---|---|---|---|---|---|---|---|
Germline | 762 | 38 | I | EC | MSH2 | frameshift insertion | NM_000251 | c.131_132insG | p.T44fs | sATM, sPALB2 |
509 | 47 | I | EC | MSH6 | stopgain | NM_001281492 | c.C583T | p.Q195X | sATM, sCHEK1 | |
329 | 59 | II | HGSC | MSH6 | frameshift insertion | NM_001281492 | c.3692_3693insG | p.X1231delinsX | sBRCA1 | |
Somatic | 378 | 53 | II | CCC | MLH1 | missense mutation | NM_000249 | c.C350T | p.T117M | — |
519 | 37 | III | CCC | MLH1 | missense mutation | NM_001167617 | c.C688G | p.Q230E | sATM | |
555 | 50 | III | HGSC | MLH1 | missense mutation | NM_000249 | c.T107C | p.I36T | — | |
646 | 46 | I | EC | MLH1 | missense mutation | NM_000249 | c.A525C | p.K175N | sBRCA2, sATM, sBARD1, sCHEK1, sCHEK2, sNBN, sRAD50 | |
762 | 38 | I | EC | MSH2 | frameshift deletion | NM_000251 | c.1706delA | p.E569fs | sATM, sPALB2 | |
1031 | 43 | I | CCC | MSH2 | frameshift deletion | NM_001258281 | c.1403delG | p.R468fs | — | |
1146 | 50 | I | EC | MSH2 | frameshift deletion | NM_000251 | c.67delT | p.F23fs | sATM, sFANCL | |
762 | 38 | I | EC | MSH6 | frameshift deletion | NM_000179 | c.3254delC | p.T1085fs | sATM, sPALB2 | |
509 | 47 | I | EC | MSH6 | frameshift deletion | NM_001281492 | c.297delG | p.E99fs | sATM, sCHEK1 | |
762 | 38 | I | EC | PMS2 | stopgain | NM_000535 | c.C1882T | p.R628X | sATM, sPALB2 | |
1321 | 41 | I | EC | PMS2 | missense mutation | NM_000535 | c.C637T | p.P213S | sBRCA2, sCHEK2, sRAD51B |
