了解胰腺导管腺癌的家族风险。
Understanding familial risk of pancreatic ductal adenocarcinoma.
机构信息
The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Human Genetics Predoctoral Training Program, the McKusick-Nathans Department of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
出版信息
Fam Cancer. 2024 Nov;23(4):419-428. doi: 10.1007/s10689-024-00383-2. Epub 2024 Apr 12.
Pancreatic ductal adenocarcinoma (PDAC) is a deadly disease that is the result of an accumulation of sequential genetic alterations. These genetic alterations can either be inherited, such as pathogenic germline variants that are associated with an increased risk of cancer, or acquired, such as somatic mutations that occur during the lifetime of an individual. Understanding the genetic basis of inherited risk of PDAC is essential to advancing patient care and outcomes through improved clinical surveillance, early detection initiatives, and targeted therapies. In this review we discuss factors associated with an increased risk of PDAC, the prevalence of genetic variants associated with an increased risk in patients with PDAC, estimates of PDAC risk in carriers of pathogenic germline variants in genes associated with an increased risk of PDAC. The role of common variants in pancreatic cancer risk will also be discussed.
胰腺导管腺癌（PDAC）是一种致命的疾病，是一系列连续遗传改变的结果。这些遗传改变既可以是遗传的，例如与癌症风险增加相关的致病性种系变体，也可以是后天获得的，例如个体一生中发生的体细胞突变。了解 PDAC 遗传风险的遗传基础对于通过改善临床监测、早期检测计划和靶向治疗来提高患者的护理和结果至关重要。在这篇综述中，我们讨论了与 PDAC 风险增加相关的因素、与 PDAC 患者风险增加相关的遗传变异的流行率、在与 PDAC 风险增加相关的基因中携带致病性种系变异的个体中 PDAC 风险的估计。常见变异在胰腺癌风险中的作用也将被讨论。
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