Table 1 Pathogenic variants and high probability of pathogenicity variants of uncertain significance (HiP-VUS) identified from a custom 34- or 59-gene panel and a clinical 14-gene panel in pancreatic cancer cases, unselected for family history

 ATM

c.7327C > G p.(R2443G)

M: 60s

0.81

 ATM

c.8734A > G p.(R2912G)

F: 60s

0.81

 BRCA2

c.3873del p.(Q1291Hfs*2)

M: 50s

1

 MSH6

c.3261dup p.(F1088Lfs*5)

F: 50s

1

 PALB2

c.1240C > T p.(R414*)

F: 60s

1

 STK11

c.738C > A p.(Y246*)

M: 40s

1

 ATM

c.1564_1565del p.(E522Ifs*43)

M: 50s

1

 ATM

c.8734A > G p.(R2912G)

M: 70s

0.81

 BRCA1

c.68_69del p.(E23Vfs*17)

M: 70s

1

 BRCA2

c.3974_3975insTGCT p.(T1325Cfs*4)

M: 70s

1

 BRCA2

c.8447G > A p.(G2816D)

F: 60s

0.81

 CHEK2

c.1159A > G p.(T387A)

M: 80s

0.81

 CHEK2

c.1427C > T p.(T476 M)

F: 50s

0.99^a

 MRE11A

c.923dupT p.(M309Hfs*8)

M: 50s

1

 MRE11A

c.1516G > T p.(E506*)

F: 60s

1

 MSH6

c.3851C > T p.(T1284 M)

F: 60s

0.94

 PALB2

c.2167_2168del p.(M723Vfs*21)

M: 60s^c

1

 RAD50

c.3641G > A p.(R1214H)

F: 50s

-^a

 TP53

c.847C > T p.(R283C)

M: 60s

0.81

 ATM

c.1402_1406delAAGAG p.(K468Vfs*17)

F:40s

1

 ATM

c.2426C > A p.(S809*)

F:80s^d

1

 ATM

c.3993 + 1G > A (splice donor)

M:70s^e

-^b

 BRCA2

c.6275_6276delTT p.(L2092Pfs*7)

M:70s

1^b

 CDKN2A

c.301G > T p.(G101 W)

F:60s^f

1

 CHEK2

c.349A > G p.(R117G)

F:70s

0.95

 MSH6

c.1444C > T p.(R482*)

F:70s^g

1

 TP53

c.1015G > A p.(E339K)

F:70s

0.81