Page 51 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
cascón a, comino-méndeZ i, currás-Freixes m, de cuBas aa, contreras l, richter s, PeitZsch m, manciKoVa V, ingla- da-PéreZ l, PéreZ-Barrios a, calataYud m, aZriel s, Villar-Vi- cente r, aller J, setién F, moran s, garcía JF, río-machín a, letón r, gómeZ-graña á, aPellániZ-ruiZ m, roncador g, es- teller m, rodrígueZ-antona c, satrústegui J, eisenhoFer g, urioste m, roBledo m. Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene. J Natl Cancer I 2015; 107, djv053.
de cuBas aa, KorPershoeK e, inglada-PéreZ l, letouZé e, currás-Freixes m, FernándeZ aF, comino-méndeZ i, schiaVi F, manciKoVa V, eisenhoFer g, mannelli m, oPocher g, tim- mers h, Beuschlein F, de KriJger r, cascon a, rodrígueZ-an- tona c, Fraga mF, FaVier J, giméneZ-roquePlo aP, roBledo m. DNA Methylation Profiling in Pheochromocytoma and Par- aganglioma Reveals Diagnostic and Prognostic Markers. Clin Cancer Res 2015;21, 3020-3030.
calVete o, martíneZ P, garcía-PaVia P, BeniteZ-Buelga c, Pau- mard-hernándeZ B, FernándeZ V, domingueZ F, salas c, rome-
Highlights
The U706 aims to identify genetic alterations con- ferring cancer susceptibility, and to translate our discoveries into clinical practice. The Unit attends patients with suspected genetic susceptibility to cancer at our consultancy in the Medical Oncology Service of the Hospital Universitario de Fuenlabrada (HUF). Discussions of protocols and clinical guide- lines are held monthly conducted by the hospital’s Hereditary Cancer Clinical Committee, created in March 2015.
We have doubled the number of patients visited in our consultancy at HUF (318 versus 163 during 2014). 328 genetic diagnostic studies were per- formed (314 in 2014). Analysis of the SMARCE1 gene, associated with familial meningiomas, was incorporated into our catalogue of services.
The Unit actively contributed to the search for new genes implicated in cancer susceptibility through the Familial Cancer Exome Project that we are con- ducting. Mutations in MDH2, responsible for familial paragangliomas, in FAN1 causing familial colorectal cancer type X, in POT1 as cause of hereditary cardi- ac angiosarcoma or in ATP4a as cause of gastric carcinoide, are some of our findings.
ro-laorden n, garcía-donas J, carrillo J, Perona r, triViño Jc, andrés r, cano Jm, riVera B, alonso-PulPon l, setien F, esteller m, rodrígueZ-Perales s, Bougeard g, FreBourg t, urioste m, Blasco ma, BeníteZ J. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. Nat Commun 2015;6, 8383.
matamala n, Vargas mt, gonZáleZ-cámPora r, miñamBres r, arias Ji, menéndeZ P, andrés-león e, gómeZ-lóPeZ g, YanoWsKY K, calVete-candenas J, inglada-PéreZ l, martín- eZ-delgado B, BeníteZ J. Tumor MicroRNA Expression Profil- ing Identifies Circulating MicroRNAs for Early Breast Cancer Detection. Clin Chem 2015;61, 1098-1106.
Perea J, cano Jm, rueda d, garcía Jl, inglada l, osorio i, ar- riBa m, PéreZ J, gasPar m, FernándeZ-miguel t, rodrígueZ Y, BeníteZ J, gonZáleZ-sarmiento r, urioste m. Classifying ear- ly-onset colorectal cancer according to tumor location: new potential subcategories to explore. Am J Cancer Res 2015; 5, 2308-2313.
We are interested in the identification of modifier genes that modulate age of onset, disease evolu- tion and cancer risk, and in polymorphisms that improve the quality of life for cancer patients (Phar- macogenetics). Neuropathy limits dose and efficacy of these drugs, and diminishes the quality of life of the patients, sometimes permanently. To note our findings on the role of miRNAs as early diagnostic biomarkers of breast cancer.
Establishing relationships with cancer patient as- sociations is another goal. During 2015, the Unit strengthened its relationships with ASACO (Asoci- ación de Afectados por Cáncer de Ovario) and AEAS (Asociación de Afectados por Sarcomas).
PATENT
Perea-García J., González-Sarmiento R., Uri- oste-Azcorra M., Rueda-Fernández, D., Arri- ba-Domènech, M., García-Hernández J.L., Pérez- García. J (2015). Biomarcador para el diagnóstico, pronóstico y seguimiento de cáncer colorectal de apa- rición precoz. ES201531891.
Institution: Fund. Centro Nacional de Invest. Oncológicas · Contact: C/ Melchor Fernández Almagro, 3. 28029 Madrid · Tel.: 91 224 69 65 /91 732 80 00 · E.mail: [email protected] · Website: www.cnio.es
CIBERER I Annual report 2015 I 51