ArticleFamilial cancer2010
Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.Pancreas · 2018Pooled it
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Article
- Pathogenic CDKN2A germline variants are rare in a cohort of unselected pancreatic cancer patients from Pakistan.Familial cancer · 2025Article
- Pancreatic cancer screening is effective in individuals at risk with predisposing germline gene variants, but not in gene variant-negative familial pancreatic cancer families.United European gastroenterology journal · 2024Article
- Familial pancreatic cancer: who should be considered for genetic testing?Irish journal of medical science · 2022Article
- Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer.Journal of personalized medicine · 2021Article
- The German National Case Collection for Familial Pancreatic Carcinoma (FaPaCa)—Knowledge Gained in 20 Years.Deutsches Arzteblatt international · 2021Article
- The genetics of ductal adenocarcinoma of the pancreas in the year 2020: dramatic progress, but far to go.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Review
- Progress report: familial pancreatic cancer.Familial cancer · 2019Review
- Effect of prior cancer on survival outcomes for patients with pancreatic adenocarcinoma: a propensity score analysis.BMC cancer · 2019Article
- Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.Current genomics · 2018Review
- The impact of a history of cancer on pancreatic ductal adenocarcinoma survival.United European gastroenterology journal · 2018Article
- German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program.Hereditary cancer in clinical practice · 2018Article
- Inherited pancreatic cancer.Chinese clinical oncology · 2017Review
- Genomic Variations in Pancreatic Cancer and Potential Opportunities for Development of New Approaches for Diagnosis and Treatment.International journal of molecular sciences · 2017Review
- Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.Gastroenterology · 2015Article
- Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.PloS one · 2015Article
- Familial pancreatic cancer: challenging diagnostic approach and therapeutic management.Journal of gastrointestinal cancer · 2014Review
- Genetic predisposition to pancreatic cancer.World journal of gastroenterology · 2014Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous small scale studies reported that deleterious BRCA2 and CDKN2a germline mutations contribute to a subset of families with inherited pancreatic cancer. As the prevalence of those mutations in the setting of familial pancreatic cancer is still not well defined for the German population, we evaluated the presence of BRCA2 and CDKN2a germline mutations in a large cohort of familial pancreatic cancer (FPC) families from the German National Case Collection for Familial Pancreatic Cancer (FaPaCa). Fifty-six FPC families with at least two-first-degree relatives with confirmed pancreatic cancer that did not fulfill the criteria of other tumor predisposition syndromes, were analyzed for BRCA2 and CDKN2a germline mutations by DHPLC and/or direct sequencing. No deleterious CDKN2a mutations were identified in our families suggesting that CDKN2a mutations are unlikely to predispose PC in FPC families without melanoma. No deleterious BRCA2 mutations, but 6 unclassified variants, were detected in our FPC collection. Combining the prevalence of deleterious BRCA2 germline mutations from our previous separate study with the data from this study we were able to much more accurately estimate the BRCA2 carrier frequency for FPC families in the German population. A total of two mutations and 6 unclassified variants (mutation range: 2.8-11.4%) were thus identified in 70 German FPC families, indicating that the prevalence of BRCA2 mutations in the German FPC population is less frequent than previously reported.
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