Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients
| Autor: | Raymond Moore, Kannabiran Nandakumar, Fergus J. Couch, Steven N. Hart, Bruce W. Eckloff, William R. Bamlet, Robert R. McWilliams, Yean Kit Lee, Chunling Hu, Gloria M. Petersen |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Oncology Adult Male medicine.medical_specialty Epidemiology Bioinformatics Germline Article 03 medical and health sciences 0302 clinical medicine Germline mutation Internal medicine Pancreatic cancer Biomarkers Tumor Prevalence Medicine Humans Genetic Predisposition to Disease Genetic Testing Prospective Studies CHEK2 Aged Neoplasm Staging Aged 80 and over business.industry Endometrial cancer Cancer Middle Aged medicine.disease Prognosis MSH6 Pancreatic Neoplasms 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Mutation Female business Pancreas Carcinoma Pancreatic Ductal Follow-Up Studies |
| Popis: | The prevalence of germline pathogenic mutations in a comprehensive panel of cancer predisposition genes is not well-defined for patients with pancreatic ductal adenocarcinoma (PDAC). To estimate the frequency of mutations in a panel of 22 cancer predisposition genes, 96 patients unselected for a family history of cancer who were recruited to the Mayo Clinic Pancreatic Cancer patient registry over a 12-month period were screened by next-generation sequencing. Fourteen pathogenic mutations in 13 patients (13.5%) were identified in eight genes: four in ATM, two in BRCA2, CHEK2, and MSH6, and one in BARD1, BRCA1, FANCM, and NBN. These included nine mutations (9.4%) in established pancreatic cancer genes. Three mutations were found in patients with a first-degree relative with PDAC, and 10 mutations were found in patients with first- or second-degree relatives with breast, pancreas, colorectal, ovarian, or endometrial cancers. These results suggest that a substantial proportion of patients with PDAC carry germline mutations in predisposition genes associated with other cancers and that a better understanding of pancreatic cancer risk will depend on evaluation of families with broad constellations of tumors. These findings highlight the need for recommendations governing germline gene-panel testing of patients with pancreatic cancer. Cancer Epidemiol Biomarkers Prev; 25(1); 207–11. ©2015 AACR. |
| Databáze: | OpenAIRE |
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