Table 2 Somatic and germline mutations in 50 cancer associated genes in pancreatic ductal adenocarcinoma.
Gene | Status | Mutation | Coding DNA | Protein | COSMIC | ClinVar | N* |
|---|---|---|---|---|---|---|---|
KRAS | somatic | missense | c.35G > A | p.G12D | COSM521 | pathogenic | 16 |
KRAS | somatic | missense | c.35G > T | p.G12V | COSM520 | pathogenic | 10 |
KRAS | somatic | missense | c.34G > C | p.G12R | COSM518 | pathogenic | 7 |
KRAS | somatic | missense | c.34G > T | p.G12C | COSM516 | pathogenic | 2 |
KRAS | somatic | missense | c.35G > C | p.G12A | COSM522 | pathogenic | 1 |
KRAS | somatic | missense | c.182A > G | p.Q61R | COSM1158660 | pathogenic | 1 |
TP53 | somatic | missense | c.844C > T | p.R282W | COSM3378339 | pathogenic | 2 |
TP53 | somatic | nonsense | c.916C > T | p.R306X | COSM3388168 | pathogenic | 1 |
TP53 | somatic | missense | c.832C > G | p.P278A | COSM3717626 | likely pathogenic | 1 |
TP53 | somatic | missense | c.824G > A | p.C275Y | COSM2744531 | likely pathogenic | 1 |
TP53 | somatic | missense | c.817C > T | p.R273C | COSM3355991 | pathogenic | 1 |
TP53 | somatic | inframe deletion | c.764_766del | p.I255_T256del | COSM1480062 | — | 1 |
TP53 | somatic | missense | c.733G > A | p.G245S | COSM3356965 | pathogenic | 1 |
TP53 | somatic | frameshift deletion | c.723del | p.S241fs | COSM2744618 | — | 1 |
TP53 | somatic | missense | c.659A > G | p.Y220C | COSM99718 | pathogenic | 1 |
TP53 | somatic | missense | c.524G > A | p.R175H | COSM3355994 | pathogenic | 1 |
TP53 | somatic | missense | c.518T > C | p.V173A | COSM1630438 | likely pathogenic | 1 |
TP53 | somatic | missense | c.413C > T | p.A138V | COSM288785 | — | 1 |
TP53 | somatic | frameshift deletion | c.311_318del | p.Q104fs | — | — | 1 |
SMAD4 | somatic | frameshift insertion | c.316dupA | p.H105fs | — | — | 1 |
SMAD4 | somatic | missense | c.326T > G | p.L109R | COSM5196465 | — | 1 |
SMAD4 | somatic | missense | c.1051G > T | p.D351Y | COSM1151549 | — | 1 |
SMAD4 | somatic | missense | c.1081C > A | p.R361S | COSM14151 | pathogenic | 1 |
SMAD4 | somatic | frameshift deletion | c.1227_1228del | p.V409fs | — | — | 1 |
SMAD4 | somatic | nonsense | c.1333C > T | p.R445X | COSM14096 | pathogenic | 1 |
SMAD4 | somatic | frameshift insertion | c.1587dupA | p.L529fs | COSM5945985 | pathogenic | 1 |
CDKN2A | somatic | nonsense | c.172C > T | p.R58X | COSM1624870 | — | 1 |
CDKN2A | somatic | nonsense | c.262G > T | p.E88X | COSM12512 | likely pathogenic | 1 |
GNAS | somatic | missense | c.601C > T | p.R201C | COSM27887 | pathogenic | 3 |
GNAS | somatic | missense | c.602G > A | p.R201H | COSM94388 | pathogenic | 3 |
SMARCB1 | somatic | missense | c.215C > A | p.T72K | — | — | 1 |
RB1 | somatic | nonsense | c.958C > T | p.R320X | COSM1152653 | pathogenic | 1 |
MLH1 | germline | missense | c.428T > A | p.V143D | COSM26085 | likely pathogenic | 2 |
