Human Cancer Genetics Programme

Human Genetics Group

Group Leader:  Javier Benítez
Publications in the last five years
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  • Horne HN, Chung CC, Zhang H, Yu K, Prokunina-Olsson L, Michailidou K, Bolla MK, Wang Q, Dennis J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Fletcher O, Johnson N, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Anton-Culver H, Neuhausen SL, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Hamann U, Nevanlinna H, Khan S, Matsuo K, Iwata H, Dörk T, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Chenevix-Trench G; kConFab/AOCS Investigators., Wu AH, Ven den Berg D, Smeets A, Zhao H, Chang-Claude J, Rudolph A, Radice P, Barile M, Couch FJ, Vachon C, Giles GG, Milne RL, Haiman CA, Marchand LL, Goldberg MS, Teo SH, Taib NA, Kristensen V, Borresen-Dale AL, Zheng W, Shrubsole M, Winqvist R, Jukkola-Vuorinen A, Andrulis IL, Knight JA, Devilee P, Seynaeve C, García-Closas M, Czene K, Darabi H, Hollestelle A, Martens JW, Li J, Lu W, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Shah M, Luccarini C, Baynes C, Harrington P, Kang D, Choi JY, Hartman M, Chia KS, Kabisch M, Torres D, Jakubowska A, Lubinski J, Sangrajrang S, Brennan P, Slager S, Yannoukakos D, Shen CY, Hou MF, Swerdlow A, Orr N, Simard J, Hall P, Pharoah PD, Easton DF, Chanock SJ, Dunning AM, Figueroa JD. (2016). Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus. PLoS ONE 11, e0160316-.
  • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators., Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H (2016). RAD51B in Familial Breast Cancer. PLoS ONE 11, e0153788-.
  • Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, Andrulis IL, Arun BK, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo MA, Campbell I, Chan SB, Claes KB, Cohn DE, Cook J, Daly MB, Damiola F, Davidson R, Pauw Ad, Delnatte C, Diez O, Domchek SM, Dumont M, Durda K, Dworniczak B, Easton DF, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans DG, Feliubadalo L, Fostira F, Foulkes WD, Friedman E, Frost D, Gaddam P, Ganz PA, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes AM, Giraud S, Godwin AK, Goldgar DE, Hake CR, Hansen TV, Healey S, Hodgson S, Hogervorst FB, Houdayer C, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Vijai J, Karlan BY, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai PL, Manoukian S, Mazoyer S, Meindl A, Mensenkamp AR, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Olah E, Olopade OI, Ong KR, Osorio A, Park SK, Paulsson-Karlsson Y, Pedersen IS, Peissel B, Peterlongo P, Pfeiler G, Phelan CM, Piedmonte M, Poppe B, Pujana MA, Radice P, Rennert G, Rodriguez GC, Rookus MA, Ross EA, Schmutzler RK, Simard J, Singer CF, Slavin TP, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo CI, Tea MK, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, van Re (2016). Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS ONE 11, e0158801-.
  • Zhao Z, Wen W, Michailidou K, Bolla MK, Wang Q, Zhang B, Long J, Shu XO, Schmidt MK, Milne RL, García-Closas M, Chang-Claude J, Lindstrom S, Bojesen SE, Ahsan H, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blomqvist C, Bogdanova NV, Børresen-Dale AL, Brand J, Brauch H, Brenner H, Burwinkel B, Cai Q, Casey G, Chenevix-Trench G, Couch FJ, Cox A, Cross SS, Czene K, Dörk T, Dumont M, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fostira F, Gammon M, Giles GG, Guénel P, Haiman CA, Hamann U, Harrington P, Hartman M, Hooning MJ, Hopper JL, Jakubowska A, Jasmine F, John EM, Johnson N, Kabisch M, Khan S, Kibriya M, Knight JA, Kosma VM, Kriege M, Kristensen V, Le Marchand L, Lee E, Li J, Lindblom A, Lophatananon A, Luben R, Lubinski J, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, McLean C, Meijers-Heijboer H, Meindl A, Miao H, Muir K, Neuhausen SL, Nevanlinna H, Neven P, Olson JE, Perkins B, Peterlongo P, Phillips KA, Pylkäs K, Rudolph A, Santella R, Sawyer EJ, Schmutzler RK, Schoemaker M, Shah M, Shrubsole M, Southey MC, Swerdlow AJ, Toland AE, Tomlinson I, Torres D, Truong T, Ursin G, Van Der Luijt RB, Verhoef S, Wang-Gohrke S, Whittemore AS, Winqvist R, Pilar Zamora M, Zhao H, Dunning AM, Simard J, Hall P, Kraft P, Pharoah P, Hunter D, Easton DF, Zheng W. (2016). Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry. Cancer Causes Control 27, 679-693.
  • Fossmark R, Calvete O, Mjønes P, Benitez J, Waldum HL (2016). ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H+ K+ ATPase alpha subunit. Apmis 124, 561-566.
  • Abubakar M, Howat WJ, Daley F, Zabaglo L, McDuffus LA, Blows F, Coulson P, Raza Ali H, Benitez J, Milne R, Brenner H, Stegmaier C, Mannermaa A, Chang-Claude J, Rudolph A, Sinn P, Couch FJ, Tollenaar RA, Devilee P, Figueroa J, Sherman ME, Lissowska J, Hewitt S, Eccles D, Hooning MJ, Hollestelle A, Wm Martens J, Hm van Deurzen C, Investigators k, Bolla MK, Wang Q, Jones M, Schoemaker M, Broeks A, van Leeuwen FE, Van't Veer L, Swerdlow AJ, Orr N, Dowsett M, Easton D, Schmidt MK, Pharoah PD, Garcia-Closas M. (2016). High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium. J Pathol Clin Res 2, 138-153.
  • Gayarre J, Kamieniak MM, Cazorla-Jiménez A, Muñoz-Repeto I, Borrego S, García-Donas J, Hernando S, Robles-Díaz L, García-Bueno JM, Cajal TR, Hernández-Agudo E, Soto VH, Márquez-Rodas I, Echarri MJ, Lacambra-Calvet C, Sáez R, Cusidó M, Redondo A, Paz-Ares L, Hardisson D, Mendiola M, Palacios J, Benítez J, García MJ (2016). The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients. JOURNAL OF GYNECOLOGIC ONCOLOGY 27, E7-.
  • Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, KaramiNejadRanjbar M, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, Dhar S, Zhang RY, Campo L, Myers KA, Lozano M, Ruiz-Miró M, Gatius S, Mota A, Moreno-Bueno G, Matias-Guiu X, Benítez J, Witty L, McVean G, Leedham S, Tomlinson I, Drmanac R, Cazier JB, Klein R, Dunne K, Bast RC Jr, Kennedy SH, Hassan B, Lise S, Garcia MJ, Peters BA, Yau C, Sauka-Spengler T, Ahmed AA (2016). Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies. EBioMedicine 10, 137-149.
  • Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D (2015). Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. Jama-J Am Med Assoc 313, 1347-1361.
  • Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YD, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin (2015). Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet 47, 1294-1303.
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