Understanding familial risk of pancreatic ductal adenocarcinoma.

Autor: Paranal RM; 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., Wood LD; The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Klein AP; The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. aklein1@jhmi.edu.; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. aklein1@jhmi.edu.; Department of Epidemiology, Johns Hopkins University School of Public Health, Baltimore, MD, USA. aklein1@jhmi.edu., Roberts NJ; The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. nrobert8@jhmi.edu.; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. nrobert8@jhmi.edu.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2024 Nov; Vol. 23 (4), pp. 419-428. Date of Electronic Publication: 2024 Apr 12.
DOI: 10.1007/s10689-024-00383-2
Abstrakt: 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.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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