دورية أكاديمية
DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas
| العنوان: | DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas |
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| المؤلفون: | Kamieniak, Marta M., Muñoz-Repeto, Iván, Rico, Daniel, Osório, Ana, Urioste, Miguel, García-Donas, Jesús, Hernando, Susana, Robles-Díaz, Luis, Ramón y Cajal, Teresa, Cazorla Jiménez, Alicia, Sáez, Raquel Salazar, García-Bueno, José María, Domingo, Samuel, Borrego, Salud A., Palacios, José Luis, Van De Wiel, Mark A., Ylstra, Bauke, Benítez, Javier, García, María José G |
| المساهمون: | UAM. Departamento de Anatomía Patológica, UAM. Departamento de Medicina Preventiva y Salud Pública y Microbiología |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2015 |
| المجموعة: | Universidad Autónoma de Madrid (UAM): Biblos-e Archivo |
| مصطلحات موضوعية: | Ovarian cancer, Hereditary, BRCA1, BRCA2, Genomic alteration, Medicina |
| الوصف: | Background: Few studies have attempted to characterise genomic changes occurring in hereditary epithelial ovarian carcinomas (EOCs) and inconsistent results have been obtained. Given the relevance of DNA copy number alterations in ovarian oncogenesis and growing clinical implications of the BRCA-gene status, we aimed to characterise the genomic profiles of hereditary and sporadic ovarian tumours. Methods: High-resolution array Comparative Genomic Hybridisation profiling of 53 familial (21 BRCA1, 6 BRCA2 and 26 non- BRCA1/2) and 15 sporadic tumours in combination with supervised and unsupervised analysis was used to define common and/or specific copy number features. Results: Unsupervised hierarchical clustering did not stratify tumours according to their familial or sporadic condition or to their BRCA1/2 mutation status. Common recurrent changes, spanning genes potentially fundamental for ovarian carcinogenesis, regardless of BRCA mutations, and several candidate subtype-specific events were defined. Despite similarities, greater contribution of losses was revealed to be a hallmark of BRCA1 and BRCA2 tumours. Conclusion: Somatic alterations occurring in the development of familial EOCs do not differ substantially from the ones occurring in sporadic carcinomas. However, some specific features like extensive genomic loss observed in BRCA1/2 tumours may be of clinical relevance helping to identify BRCA-related patients likely to respond to PARP inhibitors ; This study was funded by the Fondo de Investigacio´n Sanitaria (FIS), Instituto de Salud Carlos III (grants CP07/00113 and PS09/01094) |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | Spanish; Castilian |
| العلاقة: | British Journal of Cancer; British Journal of Cancer 108.8 (2013): 1732-1742; 0007-0920 (print); 1532-1827 (online); http://hdl.handle.net/10486/663027Test; 1732; 1742; 108 |
| DOI: | 10.1038/bjc.2013.141 |
| الإتاحة: | https://doi.org/10.1038/bjc.2013.141Test http://hdl.handle.net/10486/663027Test |
| حقوق: | © 2013 Cancer Research UK. All rights reserved 0007 – 0920/13 ; openAccess |
| رقم الانضمام: | edsbas.E6879183 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/bjc.2013.141 |
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