ArticleCancer medicine2020
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening.
Article in Cancer medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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The trial behind it
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
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Pooled it
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Diagnosis and treatment strategies for hereditary pancreatic cancer syndrome.International journal of clinical oncology · 2025Review
- Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.JAMA oncology · 2025Article
- 17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?ESMO gastrointestinal oncology · 2025Article
- Canadian National Pancreas Conference 2023: A Review of Multidisciplinary Engagement in Pancreatic Cancer Care.Current oncology (Toronto, Ont.) · 2024Article
- Improving Access to Hereditary Testing in Pancreatic Ductal Carcinoma.JCO precision oncology · 2024Article
- Marginal Contribution of PathogenicJournal of cancer & allied specialties · 2024Article
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.Hereditary cancer in clinical practice · 2023Article
- Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next-generation sequencing.Molecular genetics & genomic medicine · 2023Article
- Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.Molecular medicine (Cambridge, Mass.) · 2023Article
- Germline BRCA testing in pancreatic cancer: improving awareness, timing, turnaround, and uptake.Therapeutic advances in medical oncology · 2023Review
- The growing needs of genetic counselling-Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong.Frontiers in genetics · 2023Review
- Article
- Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes.Journal of the National Cancer Institute · 2022Article
- Article
- Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention.Current oncology (Toronto, Ont.) · 2022Review
- PRMT5: An Emerging Target for Pancreatic Adenocarcinoma.Cancers · 2021Review
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.Cancers · 2021Article
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundRecent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC. A secondary aim was to compare genetic testing uptake rates across different modes of genetic counselling. PATIENTS AND
methodsAll patients diagnosed with PDAC in the province of British Columbia, Canada referred to a population-based hereditary cancer program were eligible for multi-gene panel testing, irrespective of cancer family history. Any healthcare provider or patients themselves could refer.
resultsA total of 305 patients with PDAC were referred between July 2016 and January 2019. Two hundred thirty-five patients attended a consultation and 177 completed index germline genetic testing. 25/177 (14.1%) of unrelated patients had a pathogenic variant (PV); 19/25 PV were in known PDAC susceptibility genes with cancer screening or risk-reduction implications. PDAC was significantly associated with PV in ATM (OR, 7.73; 95% CI, 3.10 to 19.33, P = 6.14E-05) when comparing age and gender and ethnicity-matched controls tested on the same platform. The overall uptake rate for index testing was 59.2% and was significantly higher with 1-on-1 consultations and group consultations compared to telehealth consultations (88.9% vs 82.9% vs 61.8%, P < .001).
conclusionIn a prospective clinic-based cohort of patients with PDAC referred for testing irrespective of family history, germline PV were detected in 14.1%. PV in ATM accounted for half of all PVs and were significantly associated with PDAC. These findings support recent guidelines and will guide future service planning in this population.
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Registered trials
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.