Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
Open accessAbstract
PurposePanel-based genetic testing has identified increasing numbers of patients with pancreatic ductal adenocarcinoma (PDAC) who carry germ-line mutations. However, small sample sizes or number of genes evaluated limit prevalence estimates of these mutations. We estimated prevalence of mutations in PDAC patients with positive family history.MethodsWe sequenced 25 cancer susceptibility genes in lymphocyte DNA from 302 PDAC patients in the Mayo Clinic Biospecimen Resource for Pancreatic Research Registry. Kindreds containing at least two first-degree relatives with PDAC met criteria for familial pancreatic cancer (FPC), while the remaining were familial, but not FPC.ResultsThirty-six patients (12%) carried at least one deleterious mutation in one of 11 genes. Of FPC patients, 25/185 (14%) were carriers, while 11/117 (9%) non-FPC patients with family history were carriers. Deleterious mutations (n) identified in PDAC patients were BRCA2 (11), ATM (8), CDKN2A (4), CHEK2 (4), MUTYH/MYH (3 heterozygotes, not biallelic), BRCA1 (2), and 1 each in BARD1, MSH2, NBN, PALB2, and PMS2. Novel mutations were found in ATM, BARD1, and PMS2.ConclusionMultiple susceptibility gene testing in PDAC patients with family history of pancreatic cancer is warranted regardless of FPC status and will inform genetic risk counseling for families.
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Deleterious variants in known pancreatic cancer susceptibility genes account for about 10-20% of familial clustering of pancreatic cancer.
“Deleterious variants in the known pancreatic cancer susceptibility genes account for ~10–20% of the familial clustering of pancreatic cancer.”
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- Authors
- Chaffee, K. G., Oberg, A. L., McWilliams, R. R., Majithia, N., Allen, B. A., Kidd, J., Singh, N., Hartman, A.-R., Wenstrup, R. J., & Petersen, G. M.
- Affiliations
- Mayo Clinic (US)
- Myriad Genetics (US)
- Corresponding author
- Petersen, Gloria M.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 20
- Issue
- 1
- Pages
- 119-127
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC5760284
- OpenAlex
- W2738571634
- Cited by
- 144
- References
- 38
- Citations by year
- 2026: 5 · 2025: 13 · 2024: 15 · 2023: 23 · 2022: 19 · 2021: 34 · 2020: 14 · 2019: 10 · 2018: 9 · 2017: 2
- FWCI
- 6.35
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (CA102701)
- National Cancer Institute (CA102701, R01CA-97075, P50CA102701, R01CA097075)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- pancreatic ductal adenocarcinoma, germline mutations, cancer susceptibility genes, familial pancreatic cancer, family history (medicine), mutation prevalence, BRCA2, ATM, CDKN2A, CHEK2, MUTYH, BARD1, PMS2, novel mutations
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alleles, Carcinoma, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Pancreatic Neoplasms, Registries, United States, Prevalence, Germ-Line Mutation, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing
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