Understanding familial risk of pancreatic ductal adenocarcinoma

Raymond M Paranal; Laura D Wood; Alison P Klein; Nicholas J Roberts

doi:10.1007/s10689-024-00383-2

Understanding familial risk of pancreatic ductal adenocarcinoma

Fam Cancer. 2024 Apr 12. doi: 10.1007/s10689-024-00383-2. Online ahead of print.

Authors

Raymond M Paranal^{1

2}, Laura D Wood^{1

3}, Alison P Klein^#^{4

5

6}, Nicholas J Roberts^#^{7

8}

Affiliations

¹ The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
² Human Genetics Predoctoral Training Program, the McKusick-Nathans Department of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
³ Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴ The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. aklein1@jhmi.edu.
⁵ Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. aklein1@jhmi.edu.
⁶ Department of Epidemiology, Johns Hopkins University School of Public Health, Baltimore, MD, USA. aklein1@jhmi.edu.
⁷ The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. nrobert8@jhmi.edu.
⁸ Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. nrobert8@jhmi.edu.

^# Contributed equally.

PMID: 38609521
DOI: 10.1007/s10689-024-00383-2

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.

Keywords: Cancer; Genetics; Pancreas; Risk; Surveillance.

Publication types

Review

Abstract

Publication types

Grants and funding