Table 3.
Comparisons of Mutation Carriers by Panel Gene Between Pancreatic Cancer Cases and gnomAD Controls
| Genes | Cases | gnomAD Controls | Cancer Riska | |||||
|---|---|---|---|---|---|---|---|---|
| Cases With Mutations, No. |
Individuals Tested, No.b |
Carrier Frequency, % |
Controls With Mutations, No. |
Individuals Tested, No. |
Carrier Frequency, % |
Odds Ratio (95% CI) |
Adjusted P Valuec |
|
| Genes Significantly Associated With Pancreatic Cancer | ||||||||
| CDKN2A | 9 | 2999 | 0.30 | 15 | 99 493 | 0.02 | 12.33 (5.43–25.61) | <.001 |
| TP53 | 6 | 2999 | 0.20 | 25 | 104 162 | 0.02 | 6.70 (2.52–14.95) | <.001 |
| MLH1 | 4 | 2999 | 0.13 | 25 | 103 526 | 0.02 | 6.66 (1.94–17.53) | .01 |
| BRCA2 | 57 | 2999 | 1.90 | 313 | 102 739 | 0.30 | 6.20 (4.62–8.17) | <.001 |
| ATM | 69 | 2999 | 2.30 | 386 | 104 016 | 0.37 | 5.71 (4.38–7.33) | <.001 |
| BRCA1 | 18 | 2999 | 0.60 | 208 | 104 122 | 0.20 | 2.58 (1.54–4.05) | .002 |
| Genes Not Significantly Associated With Pancreatic Cancer | ||||||||
| NF1 | 4 | 2999 | 0.13 | 31 | 103 812 | 0.03 | 3.70 (1.11–9.22) | .25 |
| PALB2 | 12 | 2999 | 0.40 | 153 | 104 169 | 0.15 | 2.33 (1.23–4.01) | .09 |
| CDH1 | 1 | 2999 | 0.03 | 15 | 102 110 | 0.01 | 2.30 (0.13–11.39) | >.99 |
| MSH6 | 6 | 2999 | 0.20 | 101 | 102 802 | 0.10 | 1.98 (0.77–4.14) | >.99 |
| FANCC | 8 | 2999 | 0.27 | 129 | 104 042 | 0.12 | 1.69 (0.76–3.21) | >.99 |
| MSH2 | 1 | 2999 | 0.03 | 16 | 103 327 | 0.02 | 1.58 (0.09–7.54) | >.99 |
| BARD1 | 4 | 2999 | 0.13 | 86 | 102 189 | 0.08 | 1.32 (0.40–3.15) | >.99 |
| CHEK2 | 33 | 2999 | 1.10 | 572 | 102 856 | 0.56 | 1.31 (0.91–1.83) | >.99 |
| RAD51C | 3 | 2999 | 0.10 | 94 | 104 128 | 0.09 | 1.11 (0.27–2.97) | >.99 |
| NBN | 4 | 2999 | 0.13 | 125 | 103 912 | 0.12 | 0.86 (0.27–2.04) | >.99 |
| BRIP1 | 4 | 2999 | 0.13 | 194 | 104 071 | 0.19 | 0.78 (0.28–1.71) | >.99 |
| MRE11A | 2 | 2999 | 0.07 | 96 | 104 071 | 0.09 | 0.71 (0.12–2.23) | >.99 |
| PMS2 | 2 | 2999 | 0.07 | 86 | 101 976 | 0.08 | 0.70 (0.12–2.22) | >.99 |
Abbreviation: gnomAD, Genome Aggregation Database.
a
Logistic regression analysis weighted by race and ethnicity.
b
Analyses do not include cases with race/ethnicity reported as other(n=19)or cases with missing race/ethnicity information (n = 12),for a total denominator of 2999.
c
Adjusted by Bonferroni correction for 19 genes with mutations from 21 tested genes.