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.

胰腺癌与家族性和遗传性癌症综合征有关。胰腺癌的多基因组合检测检测到生殖系变异BRCA1/2、PALB2、ATM、TP53、MLH1、STK11/LKB1、APC、CDKN2A和SPINK1/PRSS1作为高危基因。一项最新的全基因组关联研究揭示了胰腺癌患者常见但低风险的种系变异。对于有胰腺癌家族史或携带这些种系致病变异的高危个体，建议使用磁共振成像和内镜超声进行主动胰腺监测，以提高胰腺癌的检出率和预后。由于聚 ADP-核糖聚合酶 (PARP) 抑制剂已被证明可有效改善BRCA阳性胰腺癌以及遗传性乳腺癌和卵巢癌综合征的预后，因此 PARP 抑制剂治疗目前正作为胰腺癌的精准医学应用携带BRCA1/2的患者种系变体。本综述强调了监测胰腺癌种系致病变异的重要性，并有望改善胰腺癌的诊断和预防，并促进有效治疗策略和精准医学的发展。