Familial Cancer Unit

María Currás Head of Unit
T +34 000003311 (Ext )
mcurras@cnio.es

Technicians

Alicia Barroso
Verónica García
Eduardo Gil
Miguel Ángel Grillo
Fátima Mercadillo
Pilar Redondo

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.

Recent publications

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. CNIO Publication.
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. CNIO Publication.
Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A (2022). A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility. Cancers 14, 4738. CNIO Publication. Open Access
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C (2021). A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. Clin Chem 67, 518-533. CNIO Publication.
Figueiredo J, Mercadillo F, Melo S, Barroso A, Gonçalves M, Díaz-Tasende J, Carneiro P, Robles L, Colina F, Ibarrola C, Perea J, Morais-de-Sá E, Seruca R, Urioste M. (2021). Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden. Cancers 13, 4359. CNIO Publication.
Glubb DM, Thompson DJ, Aben KKH, Alsulimani A, Amant F, Annibali D, Attia J, Barricarte A, Beckmann MW, Berchuck A, Bermisheva M, Bernardini MQ, Bischof K, Bjorge L, Bodelon C, Brand AH, Brenton JD, Brinton LA, Bruinsma F, Buchanan DD, Burghaus S, Butzow R, Cai H, Carney ME, Chanock SJ, Chen C, Chen XQ, Chen Z, Cook LS, Cunningham JM, De Vivo I, deFazio A, Doherty JA, Dörk T, du Bois A, Dunning AM, Dürst M, Edwards T, Edwards RP, Ekici AB, Ewing A, Fasching PA, Ferguson S, Flanagan JM, Fostira F, Fountzilas G, Friedenreich CM, Gao B, Gaudet MM, Gawelko J, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harris HR, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Høgdall E, Høgdall CK, Holliday EG, Huntsman DG, Huzarski T, Jakubowska A, Jensen A, Jones ME, Karlan BY, Karnezis A, Kelley JL, Khusnutdinova E, Killeen JL, Kjaer SK, Klapdor R, Köbel M, Konopka B, Konstantopoulou I, Kopperud RK, Koti M, Kraft P, Kupryjanczyk J, Lambrechts D, Larson MC, Le Marchand L, Lele S, Lester J, Li AJ, Liang D, Liebrich C, Lipworth L, Lissowska J, Lu L, Lu KH, Macciotta A, Mattiello A, May T, McAlpine JN, McGuire V, McNeish IA, Menon U, Modugno F, Moysich KB, Nevanlinna H, Odunsi K, Olsson H, Orsulic S, Osorio A, Palli D, Park-Simon TW, Pearce CL, Pejovic T, Permuth JB, Podgorska A, Ramus SJ, Rebbeck TR, Riggan MJ, Risch HA, Rothstein JH, Runnebaum IB, Scott RJ, Sellers TA, Senz J, Setiawan VW, Siddiqui N, Sieh W, Spiewankiewicz B, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Thompson PJ, Thomsen LCV, Titus L, Tone A, Tumino R, Turman C, Vanderstichele A, Edwards DV, Vergote I, Vierkant RA, Wang Z, Wang-Gohrke S, Webb PM; OPAL Study Group; AOCS Group, White E, Whittemore AS, Winham SJ, Wu X, Wu AH, Yannoukakos D, Spurdle AB, O'Mara TA (2021). Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers. Cancer Epidem Biomar 30, 217-228. CNIO Publication.
Tapial S, García JL, Corchete L, Holowatyj AN, Pérez J, Rueda D, Urioste M, González-Sarmiento R, Perea J. (2021). Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer. Eur J Hum Genet 29, 709-713. CNIO Publication.
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. CNIO Publication.