ArticleFamilial cancer2018
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
Article in Familial cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 4 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
19 citing papers in PubMed, 4 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Pooled it
- Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Pooled it
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Patient experience of uncertainty in cancer genomics: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- [General anatomic and histopathological diagnostic aspects of hereditary tumor syndromes : The role of pathology].Pathologie (Heidelberg, Germany) · 2026Review
- DNA damage response inhibitors in pancreatic cancer: progress and challenges.Frontiers in oncology · 2026Review
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Pancreatic Cancer Biomarkers: Oncogenic Mutations, Tissue and Liquid Biopsies, and Radiomics-A Review.Digestive diseases and sciences · 2023Review
- Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- A Novel, Likely PathogenicJournal of the Endocrine Society · 2021Article
- Article
- MMR Deficiency is Homogeneous in Pancreatic Carcinoma and Associated with High Density of Cd8-Positive Lymphocytes.Annals of surgical oncology · 2020Article
- A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.EBioMedicine · 2020Article
- Enrichment of heterozygous germlineCold Spring Harbor molecular case studies · 2019Article
- Article
- Progress report: familial pancreatic cancer.Familial cancer · 2019Review
- The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.Journal of the American Geriatrics Society · 2019Article
- Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.Cancer genetics · 2017Article
- Identification of candidate genes related to pancreatic cancer based on analysis of gene co-expression and protein-protein interaction network.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 2 countries.
Funding
Abstract
Approximately 5-10% of all pancreatic cancer patients carry a predisposing mutation in a known susceptibility gene. Since >90% of patients present with late stage disease, it is crucial to identify high risk individuals who may be amenable to early detection or other prevention. To explore the spectrum of hereditary pancreatic cancer susceptibility, we evaluated germline DNA from pancreatic cancer participants (n = 53) from a large hereditary cancer registry. For those without a known predisposition mutation gene (n = 49), germline next generation sequencing was completed using targeted capture for 706 candidate genes. We identified 16 of 53 participants (30%) with a pathogenic (P) or likely pathogenic (LP) variant that may be related to their hereditary pancreatic cancer predisposition; seven had mutations in genes associated with well-known cancer syndromes (13%) [ATM (2), BRCA2 (3), MSH2 (1), MSH6 (1)]. Many had mutations in Fanconi anemia complex genes [BRCA2 (3 participants), FANCF, FANCM]. Eight participants had rare protein truncating variants of uncertain significance with no other P or LP variants. Earlier age of pancreatic cancer diagnosis (57.5 vs 64.8 years) was indicative of possessing a P or LP variant, as was cancer family history (p values <0.0001). Our multigene panel approach for identifying known cancer predisposing genetic susceptibility in those at risk for hereditary pancreatic cancer may have direct applicability to clinical practice in cases with mutations in actionable genes. Future pancreatic cancer predisposition studies should include evaluation of the Fanconi anemia genes.
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