ArticleClinical cancer research : an official journal of the American Association for Cancer Research2013
High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 3 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 3 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Pooled it
- Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.Pancreas · 2018Pooled it
- Phase II trial of veliparib in patients with previously treated BRCA-mutated pancreas ductal adenocarcinoma.European journal of cancer (Oxford, England : 1990) · 2018Trial
- Preoperative Prognostic Factors in Resectable Pancreatic Cancer: State of the Art and Prospects.Annals of surgical oncology · 2025Review
- From precursor to cancer: decoding the intrinsic and extrinsic pathways of pancreatic intraepithelial neoplasia progression.Carcinogenesis · 2024Review
- Familial Pancreatic Cancer Research: Bridging Gaps in Basic Research and Clinical Application.Biomolecules · 2024Review
- Pancreatic Cancer: A Review of Risk Factors.Life (Basel, Switzerland) · 2024Review
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.Therapeutic advances in medical oncology · 2022Article
- 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
- Targeting DNA damage repair pathways in pancreas cancer.Cancer metastasis reviews · 2021Review
- Review
- Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.JCO precision oncology · 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
- Metabolic Alterations in Pancreatic Cancer Progression.Cancers · 2019Article
- Talking Genes in Breast and Pancreatic Malignancies.Materia socio-medica · 2019Review
- Genomic profiling in pancreatic ductal adenocarcinoma and a pathway towards therapy individualization: A scoping review.Cancer treatment reviews · 2019Article
- Characteristics and Clinical Outcomes of Individuals at High Risk for Pancreatic Cancer: A Descriptive Analysis from a Comprehensive Cancer Center.Gastrointestinal disorders (Basel, Switzerland) · 2019Article
- Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.Journal of the National Cancer Institute · 2018Article
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13 authors at 6 institutions in 1 country.
Funding
Abstract
purposePancreatic ductal adenocarcinoma (PDAC) is associated with the breast ovarian cancer syndrome (BRCA1/BRCA2) mutations. It is unknown if this association is causal. EXPERIMENTAL
designThis is a single-site study of patients who underwent surgical pancreatic tumor resection and self-identified as Ashkenazi Jewish. DNA from normal pancreatic tissue was genotyped for the three Ashkenazi Jewish BRCA1/2 founder mutations BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT, and loss of heterozygosity (LOH) was determined by sequencing DNA from microdissected tumor. When additional tumor tissue was available, p53 immunohistochemistry (IHC) was conducted.
resultsThirty-seven patients underwent surgery for PDAC, seven for intraductal papillary mucinous neoplasm (IPMN), and 19 for other diseases. A high prevalence of BRCA1/2 mutations was found in the surgical cohort (12/63; 19.0%; P < 0.001), PDAC cohort (8/37; 21.6%; P < 0.001), and IPMN cohort (2/7; 28.6%; P = .01) compared with published control mutation frequency. A high prevalence of BRCA1 185delAG (8.1%; P < 0.001) and BRCA2 6174delT (10.8%; P < 0.001) in Ashkenazi Jewish patients with PDAC was shown. BRCA1/2 LOH was found in 2 of 4 BRCA1-associated PDACs and 3 of 4 BRCA2-associated PDACs. Positive p53 IHC was found in 5 of 8 BRCA1/2 PDACs.
conclusionsWe show a high prevalence of BRCA1/2 mutations with LOH in an Ashkenazi Jewish cohort of surgically resected PDAC and neoplastic lesions, suggesting that these germline mutations are causal in selected individuals.
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