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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Gastroenterology. 2019 Feb 1;156(6):1905–1913. doi: 10.1053/j.gastro.2019.01.254

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).