Unidad Clínica de Cáncer Familiar

María Currás Jefe de Unidad Clínica
T +34 917328000 (Ext )
mcurras@cnio.es

Investigadores

Ana Osorio

Becarios Pre-Doctorales

Erik Michel Marchena

Técnicos de Laboratorio

Alicia Barroso
Victoria Fernández
Verónica García
Fátima Mercadillo

Mosaic variegated aneuploidy (MVA) is a rare genetic condition that groups together a number of individuals with constitutional mosaic aneuploidies involving different chromosomes, associated with a constellation of clinical features such as developmental delay, microcephaly, and other congenital defects. Cancer predisposition, especially embryonal tumours, is one of the most important clinical signs of MVA. Among several others, spindle assembly checkpoint (SAC) is an important mechanism involved in the correct segregation of chromosomes, thus preventing the appearance of aneuploidies. To date, 3 SAC genes − BUB1B, CEP57, and TRIP13 − have been identified as being involved in MVA. Mutations in these genes only account for a proportion of MVA patients. The identification of new genes involved in MVA is not only essential for genetic counselling and for the management of these patients, but also to unravel the complex relationship between aneuploidy and carcinogenesis.

We also continued our research to try to decipher the genetic bases of familial breast and colorectal cancer, and to apply such knowledge to clinical practice through our Familial Cancer Consultancy in the Fuenlabrada University Hospital. In addition to both identifying new genes involved in the susceptibility to these tumours and quantifying the associated risk, we have also been exploring new therapeutic tools that could be useful in the future.

Publicaciones

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.
Fachal L et al. (incl. Benítez J, González-Neira A) (2020). Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet 52, 56-73. Publicación CNIO.
Silvestri V et al. (incl. Benitez J) (2020). Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA).. JAMA ONCOLOGY 6, 1218-1230. Publicación CNIO.
Yang X et al. (incl. Osorio A) (2020). Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. J Natl Cancer I 112, 1242-1250. Publicación CNIO.
Patel VL, et al. (2020). Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness. Cancer Res 80, 624-638. Publicación CNIO.
Talhouk A et al. (incl. Benitez J) (2020). Development and validation of the gene expression predictor of high-grade serous ovarian carcinoma molecular subTYPE (PrOTYPE).. Clin Cancer Res 26, 5411-5423. Publicación CNIO.
Barnes DR et al. (incl. Benitez J, González-Neira ) (2020). Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med 22, 1653-1666. Publicación CNIO.
Martins FC, Couturier DL, Paterson A, Karnezis AN, Chow C, Nazeran TM, Odunsi A, Gentry-Maharaj A, Vrvilo A, Hein A, Talhouk A, Osorio A, Hartkopf AD, Brooks-Wilson A, DeFazio A, Fischer A, Hartmann A, Hernandez BY, McCauley BM, Karpinskyj C, de Sousa CB, Høgdall C, Tiezzi DG, Herpel E, Taran FA, Modugno F, Keeney G, Nelson G, Steed H, Song H, Luk H, Benitez J, Alsop J, Koziak JM, Lester J, Rothstein JH, de Andrade JM, Lundvall L, Paz-Ares L, Robles-Díaz L, Wilkens LR, Garcia MJ, Intermaggio MP, Alcaraz ML, Brett MA, Beckmann MW, Jimenez-Linan M, Anglesio M, Carney ME, Schneider M, Traficante N, Pejovic N, Singh N, Le N, Sinn P, Ghatage P, Erber R, Edwards R, Vierkant R, Ness RB, Leung S, Orsulic S, Brucker SY, Kaufmann SH, Fereday S, Gayther S, Winham SJ, Kommoss S, Pejovic T, Longacre TA, McGuire V, Rhenius V, Sieh W, Shvetsov YB, Whittemore AS, Staebler A, Karlan BY, Rodriguez-Antona C, Bowtell DD, Goode EL, Høgdall E, Candido Dos Reis FJ, Gronwald J, Chang-Claude J, Moysich KB, Kelemen LE, Cook LS, Goodman MT, Fasching PA, Crawford R, Deen S, Menon U, Huntsman DG, Köbel M, Ramus SJ, Pharoah PDP, Brenton JD (2020). Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium. Br J Cancer 123, 793-802. Publicación CNIO.
Perea J, García JL, García-Olmo D, Urioste M, González-Sarmiento R; ?on behalf of the Spanish EOCRC group and the European study of EOCRC group (EUREOC) (2020). Comment On: Clinicopathological Features and Oncological Outcomes of Patients With Young-Onset Rectal Cancer. Brit J Surg 107, e277. Publicación CNIO. Open Access
Li H et al. (incl. Osorio A ) (2020). Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from the BRCA1 and BRCA2 cohort consortium.. Cancer Epidem Biomar 29, 368-378. Publicación CNIO.
Palacios J, de la Hoya M, Bellosillo B, de Juan I, Matías-Guiu X, Lázaro C, Palanca S, Osorio A, Rojo F, Rosa-Rosa JM, Cigudosa JC (2020). Mutational screening of BRCA1/2 genes as a predictive factor for therapeutic response in epithelial ovarian cancer: a consensus guide from the Spanish society of pathology (SEAP-IAP) and the Spanish society of human genetics (AEGH).. Virchows Arch 476, 195-207. Publicación CNIO.
Carreño M, Pena-Couso L, Mercadillo F, Perea J, Urioste M (2020). Investigation on the Role of PALB2 Gene in CDH1-Negative PatientsWith Hereditary Diffuse Gastric Cancer. Clin Transl Gastroenterol 11, e00280. Publicación CNIO.
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomäki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bia?kowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; GC-HBOC study Collaborators, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN; ABCTB Investigators; HEBON Investigators; BCFR Investigators; OCGN Investigators, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo WY, Loud JT, Lubi?ski J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, Jiang X (2020). Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.. Genet Epidemiol 44, 442-468. Publicación CNIO.
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A (2019). Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet 104, 651-664. Publicación CNIO.
Perea García J, Arribas J, Cañete A, García JL, Álvaro E, Tapial S, Narváez C, Vivas A, Brandáriz L, Hernández-Villafranca S, Rueda D, Rodríguez Y, Pérez-García J, Olmedillas-López S, García-Olmo D, Cavestro GM, Urioste M, Goel A, González-Sarmiento R (2019). Association of polyps with early-onset colorectal cancer and throughout surveillance: novel clinical and molecular implications.. Cancers 11, pii: E1900. Publicación CNIO.
Perea J, García JL, Corchete L, Lumbreras E, Arriba M, Rueda D, Tapial S, Pérez J, Vieiro V, Rodríguez Y, Brandáriz L, García-Arranz M, García-Olmo D, Goel A, Urioste M, González Sarmiento R (2019). Redefining synchronous colorectal cancers based on tumor clonality. Int J Cancer 144, 1596-1608. Publicación CNIO.
Álvaro E, Cano JM, García JL, Brandáriz L, Olmedillas-López S, Arriba M, Rueda D, Rodríguez Y, Cañete Á, Arribas J, Inglada-Pérez L, Pérez J, Gómez C, García-Arranz M, García-Olmo D, Goel A, Urioste M, González-Sarmiento R, Perea J (2019). . Int J Mol Sci 20, PII:E968.. Publicación CNIO. Open Access
Calvete O, Garcia-Pavia P, Domínguez F, Mosteiro L, Pérez-Cabornero L, Cantalapiedra D, Zorio E, Ramón Y Cajal T, Crespo-Leiro MG, Teulé Á, Lázaro C, Morente MM, Urioste M, Benitez J (2019). POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas. J. Am. Heart Assoc. 8, e012875. Publicación CNIO. Open Access
Tapial S, Olmedillas-López S, Rueda D, Arriba M, García JL, Vivas A, Pérez J, Pena-Couso L, Olivera R, Rodríguez Y, García-Arranz M, García-Olmo D, González-Sarmiento R, Urioste M, Goel A, Perea J. (2019). Cimp-Positive Status is More Representative in Multiple Colorectal Cancers than in Unique Primary Colorectal Cancers.. Sci Rep 9, 10516. Publicación CNIO. Open Access
Tavera-Tapia A, de la Hoya M, Calvete O, Martin-Gimeno P, Fernández V, Macías JA, Alonso B, Pombo L, de Diego C, Alonso R, Pita G, Barroso A, Urioste M, Caldés T, Newman JA, Benítez J, Osorio A (2019). RECQL5: another DNA helicase potentially involved in hereditary breast cancer susceptibility.. Hum Mutat 40, 566-577. Publicación CNIO.
Arriba M, Sánchez C, Vivas A, Nutu OA, Rueda D, Tapial S, Rodríguez Y, Brandáriz L, García JL, García-Olmo D, Goel A, González-Sarmiento R, Urioste M, Perea J (2019). Intermediate-onset colorectal cancer: A clinical and familial boundary between both early and late-onset colorectal cancer. PLoS One 14, e0216472. Publicación CNIO. Open Access
Baquero JM, Benítez-Buelga C, Fernández V, Urioste M, García-Giménez JL, Perona R; CIMBA Consortium, Benítez J, Osorio A (2019). A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers. Mol Oncol. 13, 1110-1120. Publicación CNIO. Open Access
Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L (2018). Association between germline mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology 154, 181-194. Publicación CNIO.
Mur P, De Voer RM, Olivera-Salguero R, Rodríguez-Perales S, Pons T, Setién F, Aiza G, Valdés-Mas R, Bertini A, Pineda M, Vreede L, Navarro M, Iglesias S, González S, Brunet J, Valencia A, Esteller M, Lázaro C, Kops GJPL, Urioste M, Puente XS, Capellá G, Valle L (2018). Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. Mol Can 17, 23. Publicación CNIO. Open Access
Alonso N, Cañueto J, Ciria S, Bueno E, Palacios-Alvarez I, Alegre M, Badenas C, Barreiro A, Pena L, Maldonado C, Nespeira-Jato MV, Peña-Penabad C, Azon A, Gavrilova M, Ferrer I, Sanmartin O, Robles L, Hernandez-Martin A, Urioste M, Puig S, Puig L, Gonzalez-Sarmiento R (2018). Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome. Brit J Dermatol 178, 198-206. Publicación CNIO.
Brandariz L, Arriba M, García JL, Cano JM, Rueda D, Rubio E, Rodríguez Y, Pérez J, Vivas A, Sánchez C, Tapial S, Pena L, García-Arranz M, García-Olmo D, Urioste M, González-Sarmiento R, Perea J (2018). Differential clinicopathological and molecular features within late-onset colorectal cancer according to tumor location. Oncotarget 9, 15302-15311. Publicación CNIO. Open Access
Tapial S, Rueda D, Arriba M, Luis García J, Brandáriz L, Pérez J, Rodríguez Y, García-Olmo D, González-Sarmiento R, Urioste M, Perea J (2018). Comment on ‘Distinct clinical outcomes of two CIMP-positive colorectal cancer subtypes based on a revised CIMP classification system’. Br J Cancer 118, E3. Publicación CNIO.
Mur P, Jemth AS, Bevc L, Amaral N, Navarro M, Valdés-Mas R, Pons T, Aiza G, Urioste M, Valencia A, Lázaro C, Moreno V, Puente XS, Stenmark P, Warpman-Berglund U, Capellá G, Helleday T, Valle L (2018). Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis. Hum Mutat 39, 1214-1225. Publicación CNIO.
Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Triviño JC, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Rodríguez Moreno JF, Fernández Aramburo A, López C, Maroto P, Sastre J, Juan Fita MJ, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, Autran AM, Benítez J (2018). Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Int J Cancer 143, 1954-1962. Publicación CNIO.
Pena-Couso L, Perea J, Melo S, Mercadillo F, Figueiredo J, Sanches JM, Sánchez-Ruiz A, Robles L, Seruca R, Urioste M (2018). Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. Eur J Hum Genet 26, 1348-1353. Publicación CNIO.
Benítez-Buelga C, Baquero JM, Vacklova T, Fernández V, Martín P, Inglada-Perez L, Urioste M, Osorio A, Benítez J (2017). Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers. Oncotarget 8, 114626-114636. Publicación CNIO. Open Access
Gayarre J, Martín-Gimeno P, Osorio A, Paumard B, Barroso A, Fernández V, de la Hoya M, Rojo A, Caldés T, Palacios J, Urioste M, Benítez J, García MJ (2017). Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. Br J Cancer 117, 1048-1062. Publicación CNIO.
Perea J, García JL, Pérez J, Rueda D, Arriba M, Rodríguez Y, Urioste M, González-Sarmiento R (2017). NOMO-1 gene is deleted in early-onset colorectal cancer. Oncotarget 8, 24429-24436. Publicación CNIO.
Arriba M, Sánchez R, Rueda D, Gómez L, García JL, Rodríguez Y, Díaz D, Pajares JA, Pérez J, Urioste M, González-Sarmiento R, Perea J (2017). Toward a Molecular Classification of Synchronous Colorectal Cancer: Clinical and Molecular Characterization. Clin Colorectal Cancer 16, 31-37. Publicación CNIO.
Calvete O, Garcia-Pavia P, Domínguez F, Bougeard G, Kunze K, Braeuninger A, Teule A, Lasa A, Ramón Y Cajal T, Llort G, Fernández V, Lázaro C, Urioste M, Benitez J (2017). The wide spectrum of POT1 gene variants correlates with multiple cancer types. Eur J Hum Genet 25, 1278-1281. Publicación CNIO.
Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A (2017). Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. Breast Cancer Res Treat 161, 117-134. Publicación CNIO.
Perea J, Arriba M, Rodríguez Y, Rueda D, García JL, Pérez J, González-Sarmiento R, Urioste M (2017). Frequency and impact of KRAS mutation in early onset colorectal cancer. Hum Pathol 61, 221-222. Publicación CNIO.