Table 2

Frequency of germline mutations in DNA damage repair and cell cycle control genes in sporadic pancreatic ductal adenocarcinoma and frequency of loss-of-function variants in gnomAD controls

GeneGrant et al53 (n=290)Shindo et al54 (n=854)Hu et al55 (n=2999)Brand et al56 (n=298)Yurgelun et al57 (n=289)Mutation prevalence (%)pLoF variants in gnomAD controls (%)
BRCA221257441.670.335
BRCA11318430.610.207
PALB2n.a.212110.340.167
MSH61n.a.6120.210.376
MLH1124n.a.n.a.0.150.066
MSH22n.a.1n.a.10.080.022
ATM310691042.030.312
CDKN2A19120.270.006
TP53116110.210.006
  • Germline mutations data were analysed from five sporadic PDAC cohorts (4730 samples).

  • gnomAD, Genome Aggregation Database; LoF, loss-of-function; n.a., not applicable.