CDKN2A and pancreatic cancer

Last edited 01/2022 and last reviewed 01/2022

• familial pancreatic cancer (FPC) includes those kindreds that contain at least two first degree relatives with pancreatic ductal adenocarcinoma
  • has been suggested that about 10% of pancreatic cancer has a familial basis (1)
• CDKN2A gene is situated on chromosome 9p21.3 (1,2)
  • CDKN2A is a tumor suppressor gene that is considered a major cause of familial melanoma
  • germline mutations in the p16/CDKN2A gene cause the Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome, and these individuals have a 13 to 37-fold increased risk of pancreatic cancer (1)
  • in melanoma-prone families of European ancestry, pancreatic cancer is the second most common type of cancers associated with CDKN2A mutations (1)
• risk of developing pancreatic cancer is also higher in FDRs (first degree relatives) of carriers than in FDRs of non-carriers (RR = 7.4 [95%CI: 2.3-18.7]) (3)
  

Reference:

• Hruban RH, Canto MI, Goggins M, Schulick R, Klein AP. Update on familial pancreatic cancer. Adv Surg. 2010;44:293-311. doi:10.1016/j.yasu.2010.05.011
• Petersen GM. Familial pancreatic cancer. Semin Oncol. 2016;43(5):548-553. doi:10.1053/j.seminoncol.2016.09.002
• Chen F, Roberts NJ, Klein AP. Inherited pancreatic cancer. Chin Clin Oncol. 2017;6(6):58. doi:10.21037/cco.2017.12.04