ArticleOncotarget2016
Germline mutations in Japanese familial pancreatic cancer patients.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 3 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
44 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis.PloS one · 2024Pooled it
- Pooled it
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Phase II clinical trial of gemcitabine plus oxaliplatin in patients with metastatic pancreatic adenocarcinoma with a family history of pancreatic/breast/ovarian/prostate cancer or personal history of breast/ovarian/prostate cancer (FABRIC study).International journal of clinical oncology · 2020Trial
- Diagnosis and treatment strategies for hereditary pancreatic cancer syndrome.International journal of clinical oncology · 2025Review
- DNA Damage and Repair in Pancreatic Cancer-The Latest Findings.International journal of molecular sciences · 2025Review
- Understanding familial risk of pancreatic ductal adenocarcinoma.Familial cancer · 2024Review
- Familial and hereditary pancreatic cancer in Japan.Familial cancer · 2024Review
- Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.Journal of biomedical science · 2024Article
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Somatic loss of ATM is a late event in pancreatic tumorigenesis.The Journal of pathology · 2023Article
- Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.Oxford medical case reports · 2022Article
- Mechanisms of development and progression of pancreatic neoplasms.Pathology international · 2022Review
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Review
- Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.Annals of gastroenterological surgery · 2021Article
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.Cancers · 2021Article
- The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.Pancreas · 2021Review
- Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer.Journal of personalized medicine · 2021Article
- DNA damage repair as a target in pancreatic cancer: state-of-the-art and future perspectives.Gut · 2021Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis. In the FPC patients, we then investigated the prevalence of germline mutations in 21 genes associated with hereditary predispositions for pancreatic, breast and ovarian cancers by means of the next-generation sequencing using a custom multiple-gene panel. We found that eight (14.5%) of the 54 FPC patients with available germline DNA carried deleterious mutations in BRCA2, PALB2, ATM, or MLH1. These results indicate that a significant fraction of patients with PDAC in Japan have a family history of pancreatic cancer, and some of them harbor deleterious causative mutations in known FPC predisposition genes.
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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.