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.
Publications
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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.
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. CNIO Publication.
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. CNIO Publication.
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. CNIO Publication.
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.. CNIO Publication. 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. CNIO Publication.
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