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Most relevant scientific articles
• Apellániz-Ruiz M, Tejero H, Inglada-Pérez L, Sánchez-Barroso L, Gutiérrez-Gutiérrez G, Calvo I et al. Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel- Induced Peripheral Neuropathy.Clinical cancer research: an official journal of the American Association for Cancer Research. 2016.
• Mancikova V, Montero-Conde C, Perales-Paton J, Fernandez A, Santacana M, Jodkowska K et al. Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RET M918T Tumors.Clinical cancer rresearch:an official journal of the American Association for Cancer Research. 2016.
• Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM et al. Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.Human molecular genetics. 2016.
• Perea J., Arriba M., Rueda D., Sanchez R., Garcia J.L., Perez J. et al. Comment on ‘Wild-type APC prediction of poor prognosis in microsatellite-stable proximal colorectal cancer differs according to the age of onset’. British Journal of Cancer. 2016;114(10):e7.
• Benitez-Buelga C., Vaclova T., Ferreira S., Urioste M., Inglada-Perez L., Soberon N. et al. Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. Oncotarget. 2016;7(18):25815-25825.
Hightlights
One of the most relevant aspects of the group is the participation in international projects.
The European project BRIDGES (call 2015 Horizon 2020), aims to uncover which high susceptibility genes could be applied to the study of families with breast and ovarian cancer. The project consists of three stages. The first stage will study a set of 31 genes (panel 1) by massive sequencing in 40,000 women with cancer breast BRCAs negative and 40,000 controls. These genes have been published as candidates to be medium/high risk genes, and the aim is to clarify which can be really high risk genes. A second stage will analyze the same cases and controls for a second set of 30 genes (panel 2) selected through the COMPLEXO Consortia. In a third stage the most interesting genes (panel 1 and 2) will be selected to build a new panel of clinical application. The project consists of six WP and our group is responsible of the coordination of the WP2, which includes the selection of genes from the two panels, organization of samples, preparation of libraries, sequencing and variant calling.
The first stage has been finished in 2016 and we are currently analyzing data (WP3) and selecting the second set of genes.
Another international project beginning in 2016 is focused on the search for new treatments for metastatic pheochromocytoma. It involves seven groups (5 Europeans and two Americans). Our group leads the WP centered in the construction of a database that contains all genomic data published until so far on this disease, and the analysis of exomes from primary tumors and matched metastasis, looking for secondary mutations potentially related with the progression of the disease. Our group defines genomic profiles of cellular and animals models generated by the other groups, to identify the most representative in order to apply different treatments.
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