Genetics of familial and sporadic pancreatic cancer
Abstract
In the previous decade, comprehensive genomic analyses have yielded important insights about the genetic alterations that underlie pancreatic tumorigenesis. Whole-exome and whole-genome sequencing of pancreatic ductal adenocarcinomas have confirmed the critical driver genes altered in the majority of pancreatic cancers, as well as identified numerous less frequently altered driver genes, and have delineated cancer subgroups with unique biological and clinical features. It is now appreciated that pancreatic susceptibility gene alterations are often identified in patients with pancreatic cancer without family histories suggestive of a familial cancer syndrome, prompting recent efforts to expand gene testing to all patients with pancreatic cancer. Studies of pancreatic cancer precursor lesions have begun to elucidate the evolutionary history of pancreatic tumorigenesis and to help us understand the utility of biomarkers for early detection and targets to develop new therapeutic strategies. In this review, we discuss the results of comprehensive genomic characterization of pancreatic ductal adenocarcinoma and its precursor lesions, and we highlight translational applications in early detection and therapy.
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Deleterious variants have been reported in about 5-10% of patients with apparently sporadic pancreatic cancer.
“Deleterious variants have also been reported in ~5–10% of patients with apparently sporadic pancreatic cancer.”
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Valosin-Containing Protein Stabilizes Mutant p53 to Promote Pancreatic Cancer Growth
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Familial and Inherited Pancreatic Cancer
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Genetics and biology of pancreatic ductal adenocarcinoma
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- Authors
- Wood, L. D., Yurgelun, M. B., & Goggins, M. G.
- Affiliations
- Johns Hopkins University (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Wood, Laura D.
- Yurgelun, Matthew B.
- Goggins, Michael G.
- Venue
- Gastroenterology
- Publisher
- Elsevier BV
- Published
- 2019-05
- Volume
- 156
- Issue
- 7
- Pages
- 2041-2055
- ISSN
- 0016-5085 (ISSN-L)
- OpenAlex
- W2911125781
- Cited by
- 91
- References
- 177
- Citations by year
- 2026: 3 · 2025: 16 · 2024: 18 · 2023: 9 · 2022: 12 · 2021: 16 · 2020: 13 · 2019: 4
- FWCI
- 1.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gastroenterology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Lustgarten Foundation
- American Association for Cancer Research
- Sidney Kimmel Foundation for Cancer Research
- American Gastroenterological Association
- National Institutes of Health (CA62924, R01CA176828, K08 DK107781, U01210170)
- Pancreatic Cancer Action Network
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- pancreatic ductal adenocarcinoma, familial pancreatic cancer, sporadic pancreatic cancer, driver genes, cancer subgroups, genetic testing, pancreatic cancer precursor lesions, pancreatic carcinogenesis, early diagnosis biomarkers, therapeutic target
- MeSH terms
- Clinical Decision-Making, Genetic Testing, Humans, Pancreatic Neoplasms, Pedigree, Phenotype, Predictive Value of Tests, Risk Factors, Biomarkers, Tumor, Genetic Variation, Risk Assessment, Genetic Predisposition to Disease, Carcinoma, Pancreatic Ductal, Heredity, Early Detection of Cancer, Precision Medicine
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