DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas
Author
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 GEntity
UAM. Departamento de Anatomía Patológica; UAM. Departamento de Medicina Preventiva y Salud Pública y MicrobiologíaPublisher
Nature Publishing GroupDate
2013-04-30Citation
10.1038/bjc.2013.141
British Journal of Cancer 108.8 (2013): 1732-1742
ISSN
0007-0920 (print); 1532-1827 (online)DOI
10.1038/bjc.2013.141Funded by
This study was funded by the Fondo de Investigacio´n Sanitaria (FIS), Instituto de Salud Carlos III (grants CP07/00113 and PS09/01094)Subjects
Ovarian cancer; Hereditary; BRCA1; BRCA2; Genomic alteration; MedicinaRights
© 2013 Cancer Research UK. All rights reserved 0007 – 0920/13Abstract
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
Files in this item
Google Scholar:Kamieniak, Marta M.
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Muñoz-Repeto, Iván
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Rico, Daniel
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Osório, Ana
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Urioste, Miguel
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García-Donas, Jesús
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Hernando, Susana
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Robles-Díaz, Luis
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Ramón y Cajal, Teresa
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Cazorla Jiménez, Alicia
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Sáez, Raquel Salazar
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García-Bueno, José María
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Domingo, Samuel
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Borrego, Salud A.
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Palacios, José Luis
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Van De Wiel, Mark A.
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Ylstra, Bauke
-
Benítez, Javier
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García, María José G
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