Table 3.
Comparison of germline mutations identified in patients with surgically resected IPMN and ExAC controls
Germline mutation | IPMN | EXAC | |||||
---|---|---|---|---|---|---|---|
AC | AN | AF | AC | AN | AF | P value | |
Hereditary cancer gene | 26 | 630 | 0.041 | 3921 | 105586 | 0.037 | 0.6590 |
Pancreatic cancer susceptibility gene | 10 | 630 | 0.016 | 992 | 105732 | 0.009 | 0.1403 |
ATM | 5 | 630 | 0.008 | 134 | 106203 | 0.001 | <0.0001* |
BRCA2 | 3 | 630 | 0.005 | 216 | 106188 | 0.002 | 0.2858 |
MSH6 | 1 | 630 | 0.002 | 261 | 106196 | 0.002 | 0.9709 |
PALB2 | 1 | 630 | 0.002 | 63 | 106206 | 0.001 | 0.8413 |
ALK | 1 | 630 | 0.002 | 24 | 106209 | 0.000 | 0.3570 |
BRIP1 | 1 | 630 | 0.002 | 120 | 106202 | 0.001 | 0.7336 |
BUB1B | 1 | 630 | 0.002 | 32 | 106209 | 0.000 | 0.4874 |
CDH1 | 1 | 630 | 0.002 | 9 | 96677 | 0.000 | 0.0861 |
FANCA | 1 | 630 | 0.002 | 117 | 105585 | 0.001 | 0.7189 |
FANCD2 | 1 | 630 | 0.002 | 83 | 106209 | 0.001 | 0.9947 |
FANCI | 2 | 630 | 0.003 | 83 | 106208 | 0.001 | 0.1569 |
FANCM | 1 | 630 | 0.002 | 174 | 106183 | 0.002 | 0.9746 |
NBN | 1 | 630 | 0.002 | 59 | 103676 | 0.001 | 0.7286 |
PTCH1 | 2 | 630 | 0.003 | 14 | 105834 | 0.000 | <0.0001* |
RB1 | 1 | 630 | 0.002 | 6 | 106198 | 0.000 | 0.0235 |
RECQL4 | 1 | 630 | 0.002 | 173 | 105674 | 0.002 | 0.9754 |
SUFU | 1 | 630 | 0.002 | 0 | 105586 | 0.000 | <0.0001* |
WT1 | 1 | 630 | 0.002 | 13 | 105241 | 0.000 | 0.1476 |
IPMN - intraductal papillary mucinous neoplasm; ExAC - Exome Aggregation Consortium; AC - germline mutation allele count, AN - assessed allele number; AF - frequency of germline mutations.
Significant when applying Bonferroni correction for multiple testing (threshold for significance = 5.3×10−4).