Unidad de Cáncer Familiar

María Currás Jefe de Unidad
T +34 000003311 (Ext )
mcurras@cnio.es

Técnicos de Laboratorio

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

Although approximately 70% of cancers are sporadic, 5–10% are hereditary, with an identifiable known genetic aetiology, while the remaining 15–20% are classified as familial, characterised by familial aggregation in the absence of a known genetic cause. Our Unit is dedicated to genetic diagnosis and translational research into hereditary and familial cancers. Our activity is divided into two main areas:

1. Genetic Diagnosis Service. Using next-generation sequencing on DNA obtained from peripheral blood and saliva, we provide genetic diagnoses. Approximately 39% of our activity is dedicated to the Familial Cancer Clinic of the University Hospital of Fuenlabrada, while the remaining 61% supports other hospitals across Madrid, Castilla-La Mancha, and the rest of Spain. In 2025, 55% of the genetic diagnoses were performed on index cases, 28% corresponded to predictive testing in relatives, and the remaining 17% involved apparently healthy individuals assessed due to their oncological family history. Over the past year, 259 urgent studies were completed within six weeks to inform surgical and/or therapeutic decision-making. Additionally, up to 50 extensions of previously completed studies were conducted to incorporate newly identified cancer susceptibility genes.

2. Research. The CRIGAMI project was initiated via a population-based genetic study to assess the prevalence of a likely pathogenic variant in CDH1 within a population in Spain.

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.
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. Publicación CNIO. 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. Publicación CNIO.
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. Publicación CNIO.
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. Publicación CNIO.
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. 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.