Although 70% of cancers are sporadic, 5-10% are hereditary (HC, with a known genetic cause), and the remaining 15-20% are familial (FC, characterised by aggregation within a family, but without a known genetic cause). Our Unit focuses on the genetic diagnosis and translational research of HC and FC, which together represent 25-30% of all tumours. Our activity is divided into two main areas:
Genetic Diagnosis Service – using Next-Generation Sequencing (NGS) on DNA obtained from peripheral blood and saliva, we provide diagnosis for HC and FC. Approximately 33% of our activity is dedicated to the Familial Cancer Clinic of the University Hospital of Fuenlabrada (FCC-UHF), while the remaining 67% supports other hospitals across Madrid, Castilla La Mancha, and the rest of Spain. In 2024, 61% of the genetic diagnoses were conducted in index cases, while 39% involved predictive testing in relatives, to guide early diagnosis and clinical surveillance at an asymptomatic stage. During this last year, 260 urgent studies were completed within six weeks to guide surgery and/or treatment decisions. In addition, up to 50 extensions of previous studies were carried out to include novel susceptibility genes described in recent years. Furthermore, we successfully established the MLH1 promoter hypermethylation testing service and NGS on DNA from tumour samples (for deceased patients).
Research. We secured funding for the CRIGAMI project.
Publicaciones recientes
Martínez-Puente N, Ruz-Caracuel I, Leandro-García LJ, Pian-Arias H, Vega-Corral Z, Letón R, Radu R, Berrizbeitia M, Mellid S, Reglero C, Salazar-Hidalgo ME, Arroba E, Díaz-Talavera A, Marazuela M, Benito-Berlinches A, González-García I, Campos-Mena S, Lozano-Escario MD, Guadalix S, Calatayud M, Pérez-Campos A, Lahera M, Cascón A, Galofré JC, Currás-Freixes M, Caleiras EJ, Valderrabano P, Robledo M, Montero-Conde C. (2025).Expression of Homo sapiens (Hsa)-miR-139-5p as a Clinically Feasible Prognostic Marker for Differentiated Thyroid Cancer (DTC). Lab Invest 105, 104199. Publicación CNIO.
Michel M, Benítez-Buelga C, Calvo PA, Hanna BMF, Mortusewicz O, Masuyer G, Davies J, Wallner O, Sanjiv K, Albers JJ, Castañeda-Zegarra S, Jemth AS, Visnes T, Sastre-Perona A, Danda AN, Homan EJ, Marimuthu K, Zhenjun Z, Chi CN, Sarno A, Wiita E, von Nicolai C, Komor AJ, Rajagopal V, Müller S, Hank EC, Varga M, Scaletti ER, Pandey M, Karsten S, Haslene-Hox H, Loevenich S, Marttila P, Rasti A, Mamonov K, Ortis F, Schömberg F, Loseva O, Stewart J, D'Arcy-Evans N, Koolmeister T, Henriksson M, Michel D, de Ory A, Acero L, Calvete O, Scobie M, Hertweck C, Vilotijevic I, Kalderén C, Osorio A, Perona R, Stolz A, Stenmark P, Berglund UW, de Vega M, Helleday T (2022).Small-molecule activation of OGG1 increases oxidative DNA damage repair by gaining a new function. Science 376, 1471-1476. Publicación CNIO.
Perea J, et al. (incl. Malats N, Urioste M) (2021).cohort profile: the Spanish Early-onset Colorectal Cancer (SECOC) cohort: a multicentre Cohort study on the molecular basis of colorectal cancer among young individuals in Spain.. BMJ Open 11, e055409. Publicación CNIO.
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