Human Cancer Genetics Programme

Human Genetics Group

Group Leader:  Javier Benítez
Publications in the last five years
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  • Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J. (2018). Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. Nat Communications 9, 967-.
  • Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P (2018). Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genet Med 20, 452-457.
  • Lu Y, Beeghly-Fadiel A, Wu L, Guo X, Li B, Schildkraut JM, Im HK, Chen YA, Permuth JB, Reid BM, Teer JK, Moysich KB, Andrulis IL, Anton-Culver H, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Benitez J, Bjørge L, Brenton J, Butzow R, Caldes T, Caligo MA, Campbell IG, Chang-Claude J, Claes KBM, Couch FJ, Cramer DW, Daly MB, DeFazio A, Dennis J, Díez O, Domchek SM, Dork T, Easton DF, Eccles DM, Fasching PA, Fortner RT, Fountzilas G, Friedman E, Ganz PA, Garber J, Giles GG, Godwin AK, Goldgar DE, Goodman MT, Greene MH, Gronwald J, Hamann U, Heitz F, Hildebrandt MAT, Høgdall CK, Hollestelle A, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James P, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kwong A, Le ND, Leslie G, Lesueur F, Levine DA, Mattiello A, May T, McGuffog L, McNeish IA, Merritt MA, Modugno F, Montagna M, Neuhausen SL, Nevanlinna H, Cilius Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson SH, Olsson H, Osorio A, Park SK, Parsons MT, Peeters PHM, Pejovic T, Peterlongo P, Phelan CM, Pujana MA, Ramus SJ, Rennert G, Risch H, Rodriguez GC, Rodríguez-Antona C, Romieu I, Rookus MA, Rossing MA, Rzepecka IK, Sandler DP, Schmutzler RK, Setiawan VW, Sharma P, Sieh W, Simard J, Singer CF, Song H, Southey MC, Spurdle AB, Sutphen R, Swerdlow AJ, Teixeira MR, Teo SH, Thomassen M, Tischkowitz M, Toland AE, Trichopoulou A, Tung N, Tworoger SS, van Rensburg EJ, Vanderstichele A, Vega A, Velez Edwards D, Webb PM, Weitzel JN, Wentzensen N, Wh (2018). A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk. Cancer Res (in press).
  • Abubakar M, Chang-Claude J, Ali HR, Chatterjee N, Coulson P, Daley F, Blows F, Benitez J, Milne RL, Brenner H, Stegmaier C, Mannermaa A, Rudolph A, Sinn P, Couch FJ, Devilee P, Tollenaar RAEM, Seynaeve C, Figueroa J, Lissowska J, Hewitt S, Hooning MJ, Hollestelle A, Foekens R, Koppert LB, Investigators K, Bolla MK, Wang Q, Jones ME, Schoemaker MJ, Keeman R, Easton DF, Swerdlow AJ, Sherman ME, Schmidt MK, Pharoah PD, Garcia-Closas M. (2018). Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation. Int J Cancer (in press).
  • 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 (in press).
  • Block MS, Vierkant RA, Rambau PF, Winham SJ, Wagner P, Traficante N, Toloczko A, Tiezzi DG, Taran FA, Sinn P, Sieh W, Sharma R, Rothstein JH, Ramón Y Cajal T, Paz-Ares L, Oszurek O, Orsulic S, Ness RB, Nelson G, Modugno F, Menkiszak J, McGuire V, McCauley BM, Mack M, Lubinski J, Longacre TA, Li Z, Lester J, Kennedy CJ, Kalli KR, Jung AY, Johnatty SE, Jimenez-Linan M, Jensen A, Intermaggio MP, Hung J, Herpel E, Hernandez BY, Hartkopf AD, Harnett PR, Ghatage P, García-Bueno JM, Gao B, Fereday S, Eilber U, Edwards RP, de Sousa CB, de Andrade JM, Chudecka-Glaz A, Chenevix-Trench G, Cazorla A, Brucker SY; Australian Ovarian Cancer Study Group, Alsop J, Whittemore AS, Steed H, Staebler A, Moysich KB, Menon U, Koziak JM, Kommoss S, Kjaer SK, Kelemen LE, Karlan BY, Huntsman DG, Høgdall E, Gronwald J, Goodman MT, Gilks B, García MJ, Fasching PA, de Fazio A, Deen S, Chang-Claude J, Candido Dos Reis FJ, Campbell IG, Brenton JD, Bowtell DD, Benítez J, Pharoah PDP, Köbel M, Ramus SJ, Goode EL. (2018). MyD88 and TLR4 Expression in Epithelial Ovarian Cancer. Mayo Clin Proc 93, 307-320.
  • Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Le (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat 39, 593-620.
  • Ruiz-Pinto S, Pita G, Martín M, Alonso-Gordoa T, Barnes DR, Alonso MR, Herraez B, García-Miguel P, Alonso J, Pérez-Martínez A, Cartón AJ, Gutiérrez-Larraya F, García-Sáenz JA, Benítez J, Easton DF, Patiño-García A, González-Neira A (2018). Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients. Breast Cancer Res Treat 167, 249-256.
  • Fusco JP, Pita G, Pajares MJ, Andueza MP, Patiño-García A, de-Torres JP, Gurpide A, Zulueta J, Alonso R, Alvarez N, Pio R, Melero I, Sanmamed MF, Rodriguez Ruiz M, Gil-Bazo I, Lopez-Picazo JM, Casanova C, Baz Davila R, Agudo A, Lozano MD, Gonzalez A, Sala N, Ardanaz E, Benitez J, Montuenga L, Gonzalez-Neira A, Perez-Gracia JL. (2018). Genomic characterization of individuals presenting extreme phenotypes of high and low risk to develop tobacco-induced lung cancer. Cancer Med (in press).
  • Sastre N, Calvete O, Martínez-Vargas J, Medarde N, Casellas J, Altet L, Sánchez A, Francino O, Ventura J. (2018). Skin mites in mice (Mus musculus): high prevalence of Myobia sp. (Acari, Arachnida) in Robertsonian mice. Parasitol Res (in press).
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