Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice
| Autor: | Derek A. O'Reilly, Angela Lamarca, Christina Nuttall, Tara Clancy, Richard A Hubner, Fiona Lalloo, Alexander Jp Fulton, Lynne McCallum, Juan W. Valle, Rille Pihlak, Mairéad G McNamara |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Genetic consultation
Germline Genetic counseling BRCA Bioinformatics 03 medical and health sciences 0302 clinical medicine Retrospective Study Medicine Genetic counselling Manchester Cancer Research Centre business.industry ResearchInstitutes_Networks_Beacons/mcrc Gastroenterology medicine.disease digestive system diseases Clinical Practice Oncology 030220 oncology & carcinogenesis Mutation (genetic algorithm) Adenocarcinoma 030211 gastroenterology & hepatology Identification (biology) business Pancreatic adenocarcinoma |
| Zdroj: | World Journal of Gastrointestinal Oncology Fulton, A JP, Lamarca, A, Nuttall, C, McCallum, L, Pihlak, R, O'Reilly, D, Lalloo, F, Mcnamara, M, Hubner, R, Clancy, T & Valle, J 2019, ' Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice ', World Journal of Gastrointestinal Oncology, vol. 11, no. 2, pp. 102-116 . https://doi.org/10.4251/wjgo.v11.i2.102 |
| ISSN: | 1948-5204 |
| DOI: | 10.4251/wjgo.v11.i2.102 |
| Popis: | BACKGROUNDIdentification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family.AIMTo assess the referral pathways for genetic consultations in PDAC.METHODSElectronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria. RESULTSFour-hundred patients were eligible. Of 113 patients (28.3%) meeting EUROPAC criteria, 8.8% were referred for genetic opinion. Germ-line mutations were identified in 0.75% of the whole population.CONCLUSION Earlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments. |
| Databáze: | OpenAIRE |
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