Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer
Open accessAbstract
Background & aims We investigated the prevalence of germline mutations in APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, and TP53 in patients with pancreatic cancer.Methods The Ontario Pancreas Cancer Study enrolls consenting participants with pancreatic cancer from a province-wide electronic pathology database; 708 probands were enrolled from April 2003 through August 2012. To improve the precision of BRCA2 prevalence estimates, 290 probands were selected from 3 strata, based on family history of breast and/or ovarian cancer, pancreatic cancer, or neither. Germline DNA was analyzed by next-generation sequencing using a custom multiple-gene panel. Mutation prevalence estimates were calculated from the sample for the entire cohort.Results Eleven pathogenic mutations were identified: 3 in ATM, 1 in BRCA1, 2 in BRCA2, 1 in MLH1, 2 in MSH2, 1 in MSH6, and 1 in TP53. The prevalence of mutations in all 13 genes was 3.8% (95% confidence interval, 2.1%-5.6%). Carrier status was associated significantly with breast cancer in the proband or first-degree relative (P < .01), and with colorectal cancer in the proband or first-degree relative (P < .01), but not family history of pancreatic cancer, age at diagnosis, or stage at diagnosis. Of patients with a personal or family history of breast and colorectal cancer, 10.7% (95% confidence interval, 4.4%-17.0%) and 11.1% (95% confidence interval, 3.0%-19.1%) carried pathogenic mutations, respectively.Conclusions A small but clinically important proportion of pancreatic cancer is associated with mutations in known predisposition genes. The heterogeneity of mutations identified in this study shows the value of using a multiple-gene panel in pancreatic cancer.
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Genomic risk contributes to up to 8% of PDAC cases.
“Recent studies estimate that genomic risk contributes to up to 8% of PDAC cases,180–184”
From Artificial Intelligence and Early Detection of Pancreatic Cancer: 2020 Summative Review (2021) · cites this paper as [183]
The Discussion (page unavailable) reports germline mutations in cancer-predisposition genes in 3.8% of patients with pancreatic cancer, supporting a genetic contribution. It does not estimate an 8% contribution to PDAC cases; its near-10% figure applies only to patients with a personal or first-degree family history of breast or colorectal cancer. (LLM, conf=0.85)
Experimental — accuracy not yet measuredClassic medical history features (young age at PDAC diagnosis and family history of pancreatic or other cancers) have poor sensitivity in identifying individuals at high genomic risk for pancreatic cancer.
“However, these classic features have poor sensitivity in identifying individuals at high genomic risk for pancreatic cancer.182–185”
From Artificial Intelligence and Early Detection of Pancreatic Cancer: 2020 Summative Review (2021) · cites this paper as [183]
The Discussion (page unavailable) says classic personal and family history was absent in several mutation carriers, and the Results report no association with age at diagnosis or family history of pancreatic cancer. But the Results also say most carriers had some family history of cancer and that breast or colorectal cancer history was significantly associated with carrier status. The blanket claim that family history of other cancers has poor sensitivity is therefore broader than this paper establishes. (LLM, conf=0.84)
Experimental — accuracy not yet measuredDeleterious 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.”
Predisposition to MPM is very heterogeneous, similar to that reported for pancreatic cancer and other cancer types.
“Our data show, for the first time, that predisposition to MPM is very heterogeneous, similar to that reported for pancreatic cancer and other cancer types [17,18,38].”
From Germline Mutations in DNA Repair Genes Predispose Asbestos-Exposed Patients to Malignant Pleural Mesothelioma (2017) · cites this paper as [17]
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Self-citationPrevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients
Hu, C., Hart, S. N., Bamlet, W. R., Moore, R. M., Nandakumar, K., Eckloff, B. W., Lee, Y. K., Petersen, G. M., McWilliams, R. R., & Couch, F. J. (2016) · Cancer Epidemiology, Biomarkers & Prevention · doi:10.1158/1055-9965.epi-15-0455 · Cited by 137 · see citing works
Self-citationBetti, M., Casalone, E., Ferrante, D., Aspesi, A., Morleo, G., Biasi, A., Sculco, M., Mancuso, G., Guarrera, S., Righi, L., et al. (2017) · Cancer Letters · doi:10.1016/j.canlet.2017.06.028 · Cited by 101 · see citing works
Tamura, K., Yu, J., Hata, T., Suenaga, M., Shindo, K., Abe, T., MacGregor-Das, A., Borges, M., Wolfgang, C. L., Weiss, M. J., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1720588115 · Cited by 95 · see citing works
Self-citationRisk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the <i>ATM</i> Gene
Hsu, F.-C., Roberts, N. J., Childs, E., Porter, N., Rabe, K. G., Borgida, A., Ukaegbu, C., Goggins, M. G., Hruban, R. H., Zogopoulos, G., et al. (2021) · JAMA Oncology · doi:10.1001/jamaoncol.2021.3701 · Cited by 91 · see citing works
Self-citationFamily history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk
Hamada, T., Yuan, C., Yurgelun, M. B., Perez, K., Khalaf, N., Morales-Oyarvide, V., Babic, A., Nowak, J. A., Rubinson, D. A., Giannakis, M., et al. (2019) · British Journal of Cancer · doi:10.1038/s41416-019-0426-5 · Cited by 61 · see citing works
Familial pancreatic adenocarcinoma
Petersen, G. M. (2015) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2015.04.007 · Cited by 53 · see citing works
Self-citationTargeting DNA damage repair pathways in pancreas cancer
Crowley, F., Park, W., & O’Reilly, E. M. (2021) · Cancer and Metastasis Reviews · doi:10.1007/s10555-021-09983-1 · Cited by 43 · see citing works
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- Authors
- Grant, R. C., Selander, I., Connor, A. A., Selvarajah, S., Borgida, A., Briollais, L., Petersen, G. M., Lerner-Ellis, J., Holter, S., & Gallinger, S.
- Affiliations
- Ontario Institute for Cancer Research (CA)
- Mount Sinai Hospital (CA)
- University Health Network (CA)
- University of Toronto (CA)
- Mayo Clinic (US)
- ORCID
- Venue
- Gastroenterology
- Publisher
- Elsevier BV
- Published
- 2015-03
- Volume
- 148
- Issue
- 3
- Pages
- 556-564
- ISSN
- 0016-5085 (ISSN-L)
- PMC
- PMC4339623
- OpenAlex
- W2147918436
- Cited by
- 299
- References
- 59
- Citations by year
- 2026: 12 · 2025: 10 · 2024: 15 · 2023: 21 · 2022: 28 · 2021: 48 · 2020: 31 · 2019: 31 · 2018: 28 · 2017: 29 · 2016: 26 · 2015: 20
- FWCI
- 16.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Gastroenterology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Cancer Institute (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 cancer, germline mutations, cancer susceptibility genes, BRCA1, BRCA2, ATM, CDKN2A, TP53, mismatch repair genes, hereditary cancer, breast cancer, colorectal cancer, mutation prevalence, family history (medicine)
- MeSH terms
- Esophageal Achalasia, Hepatitis, Alcoholic, Humans, Pancreatic Neoplasms, Liver Transplantation, Genes, Neoplasm, Nitric Oxide Synthase Type I, Non-alcoholic Fatty Liver Disease
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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