Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital
| Autor: | J A Pajares, M. Die-Trill, M. Martin, Sara López-Tarruella, Miriam Lobo, M Sanz, J.P. Justel, I. Márquez-Rodas, C González-Asanza, C Lopez, A Muñoz-Martin, C Flores-Sanchez, C Mata, Yolanda Jerez, S. Lizarraga, M Blanco, M I Peligros, S. Luque, Jesus Solera, Oscar Bueno |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Cancer Research Pediatrics medicine.medical_specialty 030105 genetics & heredity Hospitals University 03 medical and health sciences 0302 clinical medicine Neoplastic Syndromes Hereditary Multidisciplinary approach medicine Humans Genetic Predisposition to Disease Genetic Testing Retrospective Studies Genetic testing medicine.diagnostic_test business.industry Cancer General Medicine University hospital medicine.disease Prophylactic Surgery Lynch syndrome Oncology Spain 030220 oncology & carcinogenesis Mutation (genetic algorithm) Female Hereditary Cancer business |
| Zdroj: | Europe PubMed Central |
| ISSN: | 1423-0232 0030-2414 |
| DOI: | 10.1159/000452280 |
| Popis: | Objective: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. Methods: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. Results: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. Conclusion: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected. |
| Databáze: | OpenAIRE |
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