ArticleGastroenterology2015
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.
Article in Gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 6 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
156 citing papers in PubMed, 6 syntheses or guidelines pooled it, 295 citations in OpenAlex.
- A Systematic Review of Cost-Effectiveness Studies on Pancreatic Cancer Screening.Current oncology (Toronto, Ont.) · 2025Pooled it
- SEOM-GETTHI clinical guideline for the practical management of molecular platforms (2021).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022Guideline
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Pooled it
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.Journal of genetic counseling · 2018Guideline
- Mutations in the pancreatic secretory enzymesProceedings of the National Academy of Sciences of the United States of America · 2018Trial
- Trial
- Risk Factors for Sporadic Pancreatic Neuroendocrine Tumors: A Case-Control Study.Scientific reports · 2016Trial
- Article
- SEOM‑GETTHI clinical guideline for the practical management of molecular platforms (update 2026).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications.International journal of molecular sciences · 2026Review
- Research progress in diagnosis and treatment of pancreatic cancer with mismatch repair and microsatellite instability.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Implications of Homologous Recombination Deficiency for Neoadjuvant Platinum-Based Chemotherapy in Pancreatic Cancer: A Narrative Review.Annals of surgical oncology · 2026Review
- Germline genetic profiling utilizing multigene panel testing in Jordanian patients with pancreatic cancer: a comprehensive cancer center experience.BMC cancer · 2026Article
- Adaptive Surgical Decision-Making for Synchronous Metastatic Pancreatic Cancer and Early Breast Cancer with a BRCA1 Pathogenic Variant: A Case Report.Surgical case reports · 2026Article
- DNA Damage and Repair in Pancreatic Cancer-The Latest Findings.International journal of molecular sciences · 2025Review
- A Mixed-Methods Approach to Assessing Barriers and Facilitators to Cancer Genetics Care in Black and Latino/a Individuals Impacted by Pancreatic Cancer: The Racial/ethnic Equity in GENetic Education, Risk Assessment, and TEsting (REGENERATE) Study.Digestive diseases and sciences · 2025Article
- Germline variants in CDKN2A wild-type melanoma prone families.Molecular oncology · 2025Article
- Survival of Patients with Resected Microsatellite Instability-High, Mismatch Repair Deficient, and Lynch Syndrome-Associated Pancreatic Ductal Adenocarcinomas.Annals of surgical oncology · 2025Article
96 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
BACKGROUND &
aimsWe 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.
methodsThe 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.
resultsEleven 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.
conclusionsA 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.