ArticleEBioMedicine2020
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Pan-Asian adapted ESMO Clinical Practice Guidelines for the diagnosis, treatment and follow-up of patients with pancreatic cancer.ESMO open · 2025Guideline
- Pooled it
- Comprehensive evidence for the pathogenicity of theJournal of medical genetics · 2026Article
- Investigation of molecular immune regulation mechanisms and therapeutic target prediction in pancreatic cancer based on bioinformatics and genetics.Clinics (Sao Paulo, Brazil) · 2026Article
- Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.Communications medicine · 2025Article
- Diagnosis and treatment strategies for hereditary pancreatic cancer syndrome.International journal of clinical oncology · 2025Review
- 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
- Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.Blood cancer discovery · 2025Article
- Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.Nature communications · 2025Article
- Hereditary Pancreatic Cancer: Advances in Genetic Testing, Early Detection Strategies, and Personalized Management.Journal of clinical medicine · 2025Review
- Exosome applications for the diagnosis and treatment of pancreatic ductal adenocarcinoma: An update (Review).Oncology reports · 2025Review
- Understanding familial risk of pancreatic ductal adenocarcinoma.Familial cancer · 2024Review
- Prevalence of germline variants in Brazilian pancreatic carcinoma patients.Scientific reports · 2024Article
- Article
- The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.Familial cancer · 2024Review
- Familial and hereditary pancreatic cancer in Japan.Familial cancer · 2024Review
- Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC).Familial cancer · 2024Review
- Identification of pancreatic adenocarcinoma immune subtype associated with tumor neoantigen from aberrant alternative splicing.Journal of gastrointestinal oncology · 2024Article
- Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.Journal of biomedical science · 2024Article
- Clinical characterization of patients with gBRCA1/2 mutation-positive unresectable pancreatic cancer: a multicenter prospective study.Japanese journal of clinical oncology · 2024Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNational Comprehensive Cancer Network (NCCN) recently recommended germline genetic testing for all pancreatic cancer patients. However, the genes targeted by genetic testing and the feasibility of selecting patients likely to carry pathogenic variants have not been sufficiently verified. The purpose of this study was to genetically characterize Japanese patients and examine whether the current guideline is applicable in this population.
methodsUsing targeted sequencing, we analyzed the coding regions of 27 cancer-predisposing genes in 1,005 pancreatic cancer patients and 23,705 controls in Japan. We compared the pathogenic variant frequency between cases and controls and documented the demographic and clinical characteristics of carrier patients. We then examined if it was possible to use machine learning to predict carrier status based on those characteristics.
findingsWe identified 205 pathogenic variants across the 27 genes. Pathogenic variants in BRCA2, ATM, and BRCA1 were significantly associated with pancreatic cancer. Characteristics associated with carrier status were inconsistent with previous investigations. Machine learning classifiers had a low performance in determining the carrier status of pancreatic cancer patients, while the same classifiers, when applied to breast cancer data as a positive control, had a higher performance that was comparable to that of the NCCN guideline.
interpretationOur findings support the clinical significance of multigene panel testing for pancreatic cancer and indicate that at least 3.4% of Japanese patients may respond to poly (ADP ribose) polymerase inhibitor treatments. The difficulty in predicting carrier status suggests that offering germline genetic testing for all pancreatic cancer patients is reasonable.
fundingAMED under Grant Number JP19kk0305010 and Australian National Health and Medical Research funding (ID177524).
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