Human Cancer Genetics Programme

Human Genetics Group

Group Leader:  Javier Benítez
Publications in the last five years
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  • Gutiérrez-Enríquez S, Bonache S, Ruíz de Garibay G, Osorio A, Santamariña M, Ramón Y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O (2014). About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Int J Cancer 134, 2088-2097.
  • Villa-Morales M, Cobos MA, González-Gugel E, Álvarez-Iglesias V, Martínez B, Piris MA, Carracedo A, Benítez J, Fernández-Piqueras J. (2014). FAS system deregulation in T-cell lymphoblastic lymphoma. Cell Death Dis 5, e1110-.
  • Perea J, Rueda D, Canal A, Rodríguez Y, Alvaro E, Osorio I, Alegre C, Rivera B, Martínez J, Benítez J, Urioste M (2014). Age at Onset Should Be a Major Criterion for Subclassification of Colorectal Cancer. J Mol Diagn 16, 116-126.
  • Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Alonso MR, Dennis J, Wang Q, Bolla MK, Meyer KB, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Lindblom A, Margolin S, Swerdlow A, Ashworth A, Orr N, Jones M, Matsuo K, Ito H, Iwata H, Kondo N; kConFab Investigators; Australian Ovarian Cancer Study Group, Hartman M, Hui M, Lim WY, Iau PT, Sawyer E, Tomlinson I, Kerin M, Miller N, Kang D, Choi J-, Park SK, Noh D-, Hopper JL, Schmidt DF, Makalic E, Southey MC, Teo SH, Yip CH, Sivanandan K, Tay W-, Brauch H, Brüning T, Hamann U; GENICA Network, Dunning AM, Shah M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Schmidt MK, Broeks A, Rosenberg EH, van't Veer LJ, Fasching PA, Renner SP, Ekici AB, Beckmann MW, Shen C-, Hsiung C-, Yu J-, Hou M-, Blot W, Cai Q, Wu AH, Tseng C-, Van Den Berg D, Stram DO, Cox A, Brock IW, Reed MW, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Zheng W, Deming-Halverson S, Shrubsole MJ, Long J, Shu X-, Lu W, Gao Y-, Zhang B, Radice P, Peterlongo P, Manoukian S, Mariette F, Sangrajrang S, McKay J, Couch FJ, Toland AE; TNBCC, Yannoukakos D, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Marme F, Burwinkel B, Guénel P, Truong T, Sanchez M, Mulot C, Bojesen SE, Nordestgaard BG, Flyer H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Mannermaa A, Kataja V, Kosma V-, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon (2014). FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. Br J Cancer 110, 1088-1100.
  • Castilla MA, López-García MA, Atienza MR, Rosa-Rosa JM, Díaz-Martín J, Pecero ML, Vieites B, Romero-Pérez L, Benítez J, Calcabrini A, Palacios J (2014). Vgll1 expression is associated with a triple-negative basal-like phenotype in breast cancer. Endocr-Relat Cancer 21, 587-599.
  • Rivera B, Perea J, Sánchez E, Villapún M, Sánchez-Tomé E, Mercadillo F, Robledo M, Benítez J, Urioste M (2014). A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Eur J Hum Genet 22, 423-426.
  • Rodrigues P, de Marco G, Furriol J, Mansego ML, Pineda-Alonso M, Gonzalez-Neira A, Martin-Escudero JC, Benitez J, Lluch A, Chaves FJ, Eroles P (2014). Oxidative stress in susceptibility to breast cancer: study in Spanish population. Bmc Cancer 14, 861-.
  • Khan S, Greco D, Michailidou K, Milne RL, Muranen TA, Heikkinen T, Aaltonen K, Dennis J, Bolla MK, Liu J, Hall P, Irwanto A, Humphreys K, Li J, Czene K, Chang-Claude J, Hein R, Rudolph A, Seibold P, Flesch-Janys D, Fletcher O, Peto J, Dos Santos Silva I, Johnson N, Gibson L, Aitken Z, Hopper JL, Tsimiklis H, Bui M, Makalic E, Schmidt DF, Southey MC, Apicella C, Stone J, Waisfisz Q, Meijers-Heijboer H, Adank MA, van der Luijt RB, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Turnbull C, Rahman N, Chanock SJ, Hunter DJ, Cox A, Cross SS, Reed MW, Schmidt MK, Broeks A, Veer LJ, Hogervorst FB, Fasching PA, Schrauder MG, Ekici AB, Beckmann MW, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora PM, Perez JI, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Pharoah PD, Dunning AM, Shah M, Luben R, Brown J, Couch FJ, Wang X, Vachon C, Olson JE, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Guénel P, Truong T, Laurent-Puig P, Mulot C, Marme F, Burwinkel B, Schneeweiss A, Sohn C, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Tchatchou S, Mulligan AM, Dörk T, Bogdanova NV, Antonenkova NN, Anton-Culver H, Darabi H, Eriksson M, Garcia-Closas M, Figueroa J, Lissowska J, Brinton L, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Kristensen VN; kConFab Investigators; Australian Ovarian Cancer Study Group, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Lindblom A, Margolin S, Radice P, Peterlongo P, Barile M, Mariani P, Hoonin (2014). MicroRNA Related Polymorphisms and Breast Cancer Risk. PLoS ONE 9, e109973-.
  • Gevensleben H, Bossung V, Meindl A, Wappenschmidt B, de Gregorio N, Osorio A, Romero A, Buettner R, Markiefka B, Schmutzler RK (2014). Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers. Virchows Arch 465, 365-369.
  • Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, Swerdlow A, Andrulis I, Brenner H, Behrens S, Orr N, Jones M, Ashworth A, Li J, Cramp H, Connley D, Czene K, Darabi H, Chanock SJ, Lissowska J, Figueroa JD, Knight J, Glendon G, Mulligan AM, Dumont M, Severi G, Baglietto L, Olson J, Vachon C, Purrington K, Moisse M, Neven P, Wildiers H, Spurdle A, Kosma VM, Kataja V, Hartikainen JM, Hamann U, Ko YD, Dieffenbach AK, Arndt V, Stegmaier C, Malats N, Arias Perez JI, Benítez J, Flyger H, Nordestgaard BG, Truong T, Cordina-Duverger E, Menegaux F, Dos Santos Silva I, Fletcher O, Johnson N, Häberle L, Beckmann MW, Ekici AB, Braaf L, Atsma F, van den Broek AJ, Makalic E, Schmidt DF, Southey MC, Cox A, Simard J, Giles GG, Lambrechts D, Mannermaa A, Brauch H, Guénel P, Peto J, Fasching PA, Hopper J, Flesch-Janys D, Couch F, Chenevix-Trench G, Pharoah PD, Garcia-Closas M, Schmidt MK, Hall P, Easton DF, Chang-Claude J. (2014). Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene-Environment Interactions. Genet Epidemiol 38, 84-93.
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