Understanding familial risk of pancreatic ductal adenocarcinoma

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-04-12 DOI:10.1007/s10689-024-00383-2
Raymond M. Paranal, Laura D. Wood, Alison P. Klein, Nicholas J. Roberts
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Abstract

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.

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了解胰腺导管腺癌的家族风险
胰腺导管腺癌(PDAC)是一种致命疾病,是连续基因改变累积的结果。这些基因改变既可能是遗传的,如与癌症风险增加相关的致病性种系变异,也可能是获得性的,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进临床监测、早期检测措施和靶向治疗来改善患者护理和预后至关重要。在这篇综述中,我们将讨论与 PDAC 风险增加相关的因素、与 PDAC 患者风险增加相关的基因变异的发生率、与 PDAC 风险增加相关的基因中致病性种系变异携带者的 PDAC 风险估计。还将讨论常见变异在胰腺癌风险中的作用。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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