Hilfrank Kimberly J, Rustgi Sheila D, Kastrinos Fay
Herbert Iriving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY; Division of Digestive and Liver Diseases, Columbia University Irving Medical Cancer, New York, NY.
Herbert Iriving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY; Division of Digestive and Liver Diseases, Columbia University Irving Medical Cancer, New York, NY; Columbia University Vagelos College of Physicians and Surgeons, New York, NY.
Semin Oncol. 2021 Feb;48(1):2-9. doi: 10.1053/j.seminoncol.2021.02.006. Epub 2021 Mar 11.
Pancreatic ductal adenocarcinoma (PDAC) is projected to be the second leading cause of cancer death in the US by 2030. There are multiple germline pathogenic variants and cancer syndromes associated with an increased risk of PDAC. Precision treatment, informed by germline genetic testing and molecular tumor analysis, can optimize therapeutic regimens and outcomes for those diagnosed with PDAC. As a result, the National Comprehensive Cancer Network currently recommends genetic testing for all newly diagnosed PDAC patients given the clinical implications for treatment but also for the identification of at-risk family members who can benefit from pancreatic cancer screening and other cancer prevention strategies. This article reviews inherited risk factors for the development of PDAC and current screening strategies for the early detection of PDAC in high-risk populations.
预计到2030年，胰腺导管腺癌（PDAC）将成为美国癌症死亡的第二大主要原因。有多种与PDAC风险增加相关的种系致病变异和癌症综合征。基于种系基因检测和分子肿瘤分析的精准治疗，可以优化PDAC患者的治疗方案和治疗效果。因此，鉴于其对治疗的临床意义，美国国立综合癌症网络目前建议对所有新诊断的PDAC患者进行基因检测，同时也用于识别可从胰腺癌筛查和其他癌症预防策略中受益的高危家庭成员。本文综述了PDAC发生的遗传风险因素以及高危人群中早期检测PDAC的当前筛查策略。
