Skip to main content

Table 3 Overview of germline genetic alterations with well-defined pancreatic cancer risk and genes that have been associated with familial PDAC

From: Surgical and molecular pathology of pancreatic neoplasms

Gene (syndrome) RR (Cumulative lifetime risk (%) by age 70)
STK11/LKB1 (Peutz-Jeghers syndrome) 132 (36)
PRSS1/SPINK1 (hereditary pancreatitis) 50–80 (40)
CDKN2A (FAMMM) 13–47 (17)
BRCA1/BRCA2 (HBOC) 3.5–10 (3–8)
MLH1, MSH2, MSH6, PMS2 (Lynch syndrome) 8.6 (<5)
CFTR (cystic fibrosis) 5 (<5)
FDR with PC 2–3 (2)
FDRs with PC 6 (8–12)
Possible role in FPC:
ATM, TET2, DNMT3A, POLN, POLQ, ASXL1, PALB2, FANCG, BUB1B, ESCO2, FANCC, FANCM, MSH4, RAD54L
Unknown
  1. RR relative risk, FDR first degree relative, FAMMM familial atypical multiple mole melanoma, HBOC hereditary breast and ovarian cancer syndrome, FAP familial adenomatous polyposis, PC pancreatic cancer, FPC familial pancreatic cancer. Adapted from Ghiorzo et al. and Roberts et al. [12, 151]