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Review
. 2021 Oct;26(10):1784-1792.
doi: 10.1007/s10147-021-02015-6. Epub 2021 Sep 2.

Hereditary pancreatic cancer

Kodai Abe  1 , Minoru Kitago  1 , Yuko Kitagawa  1 , Akira Hirasawa  2
Affiliations
Review

Hereditary pancreatic cancer

Kodai Abe et al. Int J Clin Oncol. 2021 Oct.

Abstract

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.

Keywords: Cancer predisposition gene; Familial pancreatic cancer; Hereditary pancreatic cancer; Multigene panel testing; Surveillance.

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Conflict of interest statement

A Hirasawa received lecture fees from Chugai Pharmaceutical Co. Ltd.; Y Kitagawa received lecture fees from Chugai Pharmaceutical Co. Ltd., Taiho Pharmaceutical Co. Ltd., Asahi Kasei Pharma Co., Otsuka Pharmaceutical Factory Inc., Ono Pharmaceutical Co. Ltd., Tsumura & Co., Eisai Co. Ltd., Otsuka Pharmaceutical Factory Inc., Medicon Inc., and Takeda Pharmaceutical Co. Ltd.

Figures

Fig. 1
Fig. 1
Relative risk and incidence of risk factors for pancreatic cancer. Pancreatic cancer has multiple mixed risk factors, including modifiable and nonmodifiable factors. These risk factors correlate with germline pathogenic variants. Very rare, but extremely high-risk germline variants (STK11/LKB1, TP53, and PRSS1/SPINK1) are usually detected using family linkage analysis, and rare and high-risk germline variants (BRCA1/2, ATM, PALB2, CDKN2A, MLH1, and APC) are detected using multigene panel testing. Common low-risk germline variants (GP2, and NOC2L) are detected using genome-wide associated studies
See this image and copyright information in PMC

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