Hereditary pancreatic cancer

Kodai Abe, Minoru Kitago, Yuko Kitagawa, Akira Hirasawa

Research output: Contribution to journalReview articlepeer-review

15 Citations (Scopus)


Pancreatic cancer is associated with both family and hereditary cancer syndromes. Multigene panel testing for pancreatic cancer detected the germline variants BRCA1/2, PALB2, ATM, TP53, MLH1, STK11/LKB1, APC, CDKN2A, and SPINK1/PRSS1 as high-risk genes. A latest genome-wide association study revealed the common, but low-risk germline variants in pancreatic cancer patients. Active pancreatic surveillance using magnetic resonance imaging and endoscopic ultrasound is recommended for high-risk individuals who have a family history of pancreatic cancer or harbor these germline pathogenic variants to improve the detection rate and prognosis of pancreatic cancer. Since poly-ADP-ribose polymerase (PARP) inhibitor has been shown to be effective in improving the prognosis of BRCA-positive pancreatic cancer as well as hereditary breast and ovarian cancer syndrome, PARP inhibitor therapy is currently being applied as precision medicine to pancreatic cancer patients harboring the BRCA1/2 germline variant. This review highlights the importance of surveillance for germline pathogenic variants in pancreatic cancer and is expected to lead to improvements in the diagnosis and prevention of pancreatic cancer as well as facilitate the development of effective therapeutic strategies and precision medicine.

Original languageEnglish
Pages (from-to)1784-1792
Number of pages9
JournalInternational Journal of Clinical Oncology
Issue number10
Publication statusPublished - Oct 2021


  • Cancer predisposition gene
  • Familial pancreatic cancer
  • Hereditary pancreatic cancer
  • Multigene panel testing
  • Surveillance

ASJC Scopus subject areas

  • Surgery
  • Hematology
  • Oncology


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