Table 2.
Clinical characteristics of the pancreatic cancer probands who carried pathogenic mutations in the sample of 290 probands who were sequenced for thirteen genes associated with pancreatic cancer risk.
| Gene | Reference sequence | Nucleotide | Codon | Previous cancer | Cancer in first-degree relatives | Immunohistochemistry | Age of onset | Stage at diagnosis | Survival from diagnosis (months) |
|---|---|---|---|---|---|---|---|---|---|
| ATM | NM_000051 | c. 1931C>A | p.S644X | None | 1 pancreatic (non-carrier), 1 prostate, and 1 lymphoma | . | 66 | 2A | 7, alive |
| ATM | NM_000051 | c.3801delG | p.E1267fs | None | 1 breast and 1 prostate | . | 50 | 4 | 6, deceased |
| ATM | NM_000051 | c.8874_8877del | p.2958_2959del | None | 1 lung and 1 prostate | . | 58 | 4 | 18, deceased |
| BRCA1 | NM_007294 | c.4117G>T | p.E1373X | None | 1 lung | . | 59 | 1B | 2, alive |
| BRCA2 | NM_000059 | c.2806_2809del | p.936_937del | None | 1 breast, 2 multiple myeloma | . | 62 | 4 | 6, deceased |
| BRCA2 | NM_000059 | c.5066_5067insA | p.A1689fs | None | 1 colorectal and 1 kidney | . | 67 | 2B | 82, alive |
| MLH1 | NM_000249 | c.677+3A>G | . | CRC age 62 | 2 breast, 1 lymphoma | N/A | 66 | 2B | 10, deceased |
| MSH2 | NM_000251 | c.942+3A>T | . | None | 2 colorectal, 1 breast, 1 ureter, 1 bladder, 1 kidney | Deficient | 68 | 2B | 13, alive |
| MSH2 | NM_000251 | c.1906g>c | p.A636P | CRC at age 24 and 43 | 1 breast, 1 colorectal | Deficient | 53 | 3 | 19, deceased |
| MSH6 | NM_000179 | c.1707delC | p.F569fs | Gallbladder, CRC and lung at age 69 | 1 breast, 1 colorectal, 1 melanoma, 1 endometrial, 1 prostate | N/A | 71 | 2B | 7, deceased |
| TP53 | NM_000546 | c.916C>T | p.R306X | None | None | . | 65 | 4 | 13, deceased |