TABLE 3.
Susceptible germline variants of pancreatic cancer and intraductal papillary mucinous neoplasm. (a) Susceptible frameshift variants of familial pancreatic cancer. (b) Susceptible single‐nucleotide variants of familial pancreatic cancer
| (a) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | NM | Patients | Codon change | Amino acid change | AF | CADD score | Category | |||
| TET2 | NM_017628.4 | #13 | c.3180dupG | p. Pro1061fs | – | 32.0 | Cancer driver gene | |||
| ASXL1 | NM_015338.6 | #13 | c.1934dupG | p. Gly646fs | 0.00084 | 34.0 | Cancer driver gene | |||
| POLN | NM_181808.4 | #5 | c.1194dupT | p. Glu399fs | 0.001 | 24.8 | DNA polymerase gene | |||
| (b) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | NM | Patients | Codon change | Amino acid change | AF of cancer | AF of non‐cancer | OR (95%CI) | p | PROVEAN score | SIFT score | Polyphen‐2 |
| PDIA2 | NM_006849.4 | #5, #8, #9, #16 | c.1403C>T | p. Pro468Leu | 0.0377 | 0.0265 | 1.48 | 0.005 | Deleterious (−8.50) | Damaging (0.003) | Possibly damaging |
| DPYSL4 | NM_006426.3 | #11, #17 | c.926C>A | p. Pro309Gln | 0.0301 | 0.0220 | 1.45 | 0.019 | Deleterious (−7.62) | Damaging (0.013) | Probably damaging |
Abbreviations: AF, allele frequency; CADD, combined annotation‐dependent depletion; CI, confidence interval; OR, odds ratio; PROVEAN, protein variation effect analyzer; SIFT, sorting intolerant from tolerant.