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
| Gene | Grant et al 53 (n=290) | Shindo et al 54 (n=854) | Hu et al 55 (n=2999) | Brand et al 56 (n=298) | Yurgelun et al 57 (n=289) | Mutation prevalence (%) | pLoF variants in gnomAD controls (%) |
| BRCA2 | 2 | 12 | 57 | 4 | 4 | 1.67 | 0.335 |
| BRCA1 | 1 | 3 | 18 | 4 | 3 | 0.61 | 0.207 |
| PALB2 | n.a. | 2 | 12 | 1 | 1 | 0.34 | 0.167 |
| MSH6 | 1 | n.a. | 6 | 1 | 2 | 0.21 | 0.376 |
| MLH1 | 1 | 2 | 4 | n.a. | n.a. | 0.15 | 0.066 |
| MSH2 | 2 | n.a. | 1 | n.a. | 1 | 0.08 | 0.022 |
| ATM | 3 | 10 | 69 | 10 | 4 | 2.03 | 0.312 |
| CDKN2A | – | 1 | 9 | 1 | 2 | 0.27 | 0.006 |
| TP53 | 1 | 1 | 6 | 1 | 1 | 0.21 | 0.006 |
Germline mutations data were analysed from five sporadic PDAC cohorts (4730 samples).
gnomAD, Genome Aggregation Database; LoF, loss-of-function; n.a., not applicable.