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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

From: Pancreatic cancer as a sentinel for hereditary cancer predisposition

Gene HGVS Notation Sex: Age of Onset Carrier Weight
Custom 34-gene panel (n = 66)
 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
  Carrier Frequency: 5.62/66 = 8.52% (3.87–17.7%)
Custom 59-gene panel (n = 147)
 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 0.99a
 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: 60sc 1
 RAD50 c.3641G > A p.(R1214H) F: 50s -a
 TP53 c.847C > T p.(R283C) M: 60s 0.81
Clinical 14-gene panel (n = 61)
 ATM c.1402_1406delAAGAG p.(K468Vfs*17) F:40s 1
 ATM c.2426C > A p.(S809*) F:80sd 1
 ATM c.3993 + 1G > A (splice donor) M:70se -b
 BRCA2 c.6275_6276delTT p.(L2092Pfs*7) M:70s 1b
 CDKN2A c.301G > T p.(G101 W) F:60sf 1
 CHEK2 c.349A > G p.(R117G) F:70s 0.95
 MSH6 c.1444C > T p.(R482*) F:70sg 1
 TP53 c.1015G > A p.(E339K) F:70s 0.81
  Carrier Frequency: 17.89/208 = 8.60% (5.50–13.20%)
  1. HGVS Human Genome Variation Society
  2. a,bThe same individual carried both variants, so carrier weight was combined and only counted once. Additional cancers: cCRC in 40s; dlung in 80s and CRC in 60s; eprostate (Gleason 7) in 70s; fmelanoma in 40s and cervical in 30s; gbreast in 50s, endometrial in 50s, and urethral in 70s