Dana-Farber Cancer Institute, Center for Cancer Genetics and Prevention, 450 Brookline Avenue, Mail Stop DA10, Boston, MA 02215, USA.
Landspitali University Hospital, University of Iceland, Eiriksgata 21, 101 Reykjavik, Iceland.
Hematol Oncol Clin North Am. 2022 Oct;36(5):943-960. doi: 10.1016/j.hoc.2022.07.008.
Germline genetic variants implicated in increasing lifetime risk of pancreatic cancer (PDAC) have been identified in ∼4% to 10% of cases. Clinical features such as family history have poor sensitivity in identifying carriers of these risk variants. Genetic testing for these germline variants has potential to guide risk assessment and surveillance recommendations in high-risk individuals to promote prevention and early detection measures. Furthermore, identification of novel germline variants can offer important insights into pathogenesis that may inform precision medicine approaches. This article reviews current understanding of germline mutations associated with PDAC risk and implications of genetic testing.
已在约 4%至 10%的病例中鉴定出与胰腺癌（PDAC）终生风险增加相关的种系遗传变异。家族史等临床特征在识别这些风险变异携带者方面的敏感性较差。对这些种系变异进行基因检测有可能指导高危个体的风险评估和监测建议，以促进预防和早期检测措施。此外，鉴定新的种系变异可以为发病机制提供重要见解，从而为精准医疗方法提供信息。本文综述了与 PDAC 风险相关的种系突变的最新认识和基因检测的意义。
