Table 5.
Somatic Mutations of PanIN Lesions Identified by Next-Generation Target Sequencing
| Patient ID | Sample ID | Lesion | Gene | Gene locus | Amino acid change | Mutant allele frequency, % | Mutation type | Function | CNA |
|---|---|---|---|---|---|---|---|---|---|
| 19T TH17 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 63.4 | Substitution | Missense | No CNA | |
| CDKN2A | 9p21.3 | p.W110X | 83.2 | Substitution | Nonsense | No CNA | |||
| TP53 | 17p13.1 | p.Y126H | 44.2 | Substitution | Missense | No CNA | |||
| TP53 | 17p13.1 | p.L130V | 50.1 | Substitution | Missense | No CNA | |||
| Cancer | KRAS | 12p12.1 | p.G12D | 34.6 | Substitution | Missense | No CNA | ||
| CDKN2A | 9p21.3 | p.W110X | 72.5 | Substitution | Missense | No CNA | |||
| TP53 | 17p13.1 | c.375+1C>CT | 9.8 | Substitution-intronic | Splice site | No CNA | |||
| TGFBR2 | 3p24.1 | p.L358delinsPTfs | 72.2 | Insertion | Frameshift | No CNA | |||
| 22T | TH19 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 52.6 | Substitution | Missense | No CNA |
| Cancer | KRAS | 12p12.1 | p.G12D | 25.3 | Substitution | Missense | No CNA | ||
| TP53 | 17p13.1 | p.R209Kfs | 14.8 | Deletion | Frameshift | No CNA | |||
| SMAD4 | 18q21.2 | p.I525V | 31.7 | Substitution | Missense | No CNA | |||
| 37T | TH12 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 48.4 | Substitution | Missense | No CNA |
| Cancer | KRAS | 12p12.1 | p.G12D | 32.9 | Substitution | Missense | No CNA | ||
| 45T | TH21 | HG-PanIN | KRAS | 12p12.1 | p.G12V | 45.2 | Substitution | Missense deletion | No CNA |
| CDKN2A | 9p21.3 | Homozygous deletion | NA | Deletion | CNA | ||||
| 49T | TH14 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 50.6 | Substitution | Missense | No CNA |
| RNF43 | 17q22 | p.R404Pfs | 88.0 | Deletion | Frameshift | No CNA | |||
| Cancer | KRAS | 12p12.1 | p.G12D | 29.8 | Substitution | Missense | No CNA | ||
| RNF43 | 17q22 | p.R404Pfs | 48.7 | Deletion | Frameshift | No CNA | |||
| TP53 | 17p13.1 | p.P8S | 8.8 | Substitution | Missense | No CNA | |||
| 69T | TH18 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 41.6 | Substitution | Missense | No CNA |
| CDKN2A | 9p21.3 | p.R80X | 81.9 | Substitution | Nonsense | No CNA | |||
| TP53 | 17p13.1 | p.C135Y | 77.9 | Substitution | Missense | No CNA | |||
| Cancer | KRAS | 12p12.1 | p.G12D | 31.5 | Substitution | Missense | No CNA | ||
| CDKN2A | 9p21.3 | p.R80X | 60.8 | Substitution | Nonsense | No CNA | |||
| RNF43 | 17q22 | p.A169T | 31.1 | Substitution | Missense | No CNA | |||
| TP53 | 17p13.1 | p.C135Y | 41.0 | Substitution | Missense | No CNA | |||
| SMAD4 | 18q21.2 | Homozygous deletion | NA | Deletion | Deletion | Loss | |||
| 70T | TH16 | HG-PanIN | KRAS | 12p12.1 | p.G12D | 44.2 | Substitution | Missense | No CNA |
| TP53 | 17p13.1 | p.R175H | 52.1 | Substitution | Missense | No CNA | |||
| CDKN2A | 9p21.3 | Homozygous deletion | NA | Deletion | Deletion | Loss | |||
| Cancer | KRAS | 12p12.1 | p.G12D | 48.8 | Substitution | Missense | No CNA | ||
| TP53 | 17p13.1 | p.R175H | 49.5 | Substitution | Missense | No CNA | |||
| CDKN2A | 9p21.3 | Homozygous deletion | NA | Deletion | Deletion | Loss | |||
| 78T | TH24 | HG-PanIN | KRAS | 12p12.1 | p.G12V | 14.2 | Substitution | Missense | No CNA |
| TP53 | 17p13.1 | p.R306X | 17.6 | Substitution | Nonsense | Loss | |||
| Cancer | KRAS | 12p12.1 | p.G12V | 25.7 | Substitution | Missense | No CNA | ||
| RNF43 | 17q22 | p.R343H | 26.8 | Substitution | Missense | No CNA | |||
| TP53 | 17p13.1 | p.R306X | 40.9 | Substitution | Nonsense | Loss | |||
| SMAD4 | 18q21.2 | p.R361S | 35.7 | Substitution | Missense | No CNA | |||
CNA, copy number alteration; HG, high-grade; PanIN, low-grade pancreatic intraepithelial neoplasia.