Human Cancer Genetics Programme

Human Genotyping-CEGEN Unit

Head of Unit:  Anna González-Neira
Publications in the last five years
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  • Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, Thompson D, Ghoussaini M, Bolla MK, Dennis J, Wang Q, Canisius S, Scott CG, Apicella C, Hopper JL, Southey MC, Stone J, Broeks A, Schmidt MK, Scott RJ, Lophatananon A, Muir K, Beckmann MW, Ekici AB, Fasching PA, Heusinger K, Dos-Santos-Silva I, Peto J, Tomlinson I, Sawyer EJ, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Anton-Culver H, Neuhausen SL, Arndt V, Brenner H, Engel C, Meindl A, Schmutzler RK; German Consortium of Hereditary Breast and Ovarian Cancer, Arnold N, Brauch H, Hamann U, Chang-Claude J, Khan S, Nevanlinna H, Ito H, Matsuo K, Bogdanova NV, Dörk T, Lindblom A, Margolin S; kConFab/AOCS Investigators, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Floris G, Lambrechts D, Rudolph A, Peterlongo P, Radice P, Couch FJ, Vachon C, Giles GG, McLean C, Milne RL, Dugué PA, Haiman CA, Maskarinec G, Woolcott C, Henderson BE, Goldberg MS, Simard J, Teo SH, Mariapun S, Helland Å, Haakensen V, Zheng W, Beeghly-Fadiel A, Tamimi R, Jukkola-Vuorinen A, Winqvist R, Andrulis IL, Knight JA, Devilee P, Tollenaar RA, Figueroa J, García-Closas M, Czene K, Hooning MJ, Tilanus-Linthorst M, Li J, Gao YT, Shu XO, Cox A, Cross SS, Luben R, Khaw KT, Choi JY, Kang D, Hartman M, Lim WY, Kabisch M, Torres D, Jakubowska A, Lubinski J, McKay J, Sangrajrang S, Toland AE, Yannoukakos D, Shen CY, Yu JC, Ziogas A, Schoemaker MJ, Swerdlow A, Borresen-Dale AL, Kristensen V, French JD, Edw (2015). Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. Am J Hum Genet 97, 22-34.
  • Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PD, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang R, Surowy H, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, González-Neira A, Benitez J, Zamora MP, Arias Perez JI, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko Y, Brüning T; The GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dörk T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma V, Hartikainen JM; kConFab Investigators, Wu AH, Tseng C, Van Den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Radice P, Peterlongo P, Barile M, Capra F, Couch FJ, Olson JE, Hallberg E, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, See M, Cornes B, Cheng C, Ikram MK, Kristensen V; Norwegian Breast Cancer S (2015). Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1. Am J Hum Genet 96, 5-20.
  • Amin Al Olama A, Dadaev T, Hazelett DJ, Li Q, Leongamornlert D, Saunders EJ, Stephens S, Cieza-Borrella C, Whitmore I, Benlloch Garcia S, Giles GG, Southey MC, Fitzgerald L, Gronberg H, Wiklund F, Aly M, Henderson BE, Schumacher F, Haiman CA, Schleutker J, Wahlfors T, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Stanford JL, Thibodeau SN, Mcdonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokolorczyk D, Kluzniak W, Cannon-Albright L, Brenner H, Butterbach K, Arndt V, Park JY, Sellers T, Lin HY, Slavov C, Kaneva R, Mitev V, Batra J, Clements JA, Spurdle A, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Kierzek A, Govindasami K, Guy M, Lophatonanon A, Muir K, Viñuela A, Brown AA; PRACTICAL Consortium; COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative; Australian Prostate Cancer BioResource; UK Genetic Prostate Cancer Study Collaborators; UK ProtecT Study Collaborators, Freedman M, Conti DV, Easton D, Coetzee GA, Eeles RA, Kote-Jarai Z (2015). Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans. Hum Mol Genet 24, 5889-602.
  • Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N, Marmé F, Surowy HM, Burwinkel B, Guénel P, Truong T, Menegaux F, Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Müller-Myhsok B, Brauch H, Brüning T, Ko YD; The GENICA Network, Tessier DC, Vincent D, Bacot F, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Australian Ovarian Cancer Study Group, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Manoukian S, Bonanni B, Couch FJ, Wang X, Vachon C, Purrington K, Giles GG, Milne RL, Mclean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Hassan N, Vithana EN, Kristensen V, Zhen (2015). Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. Hum Mol Genet 24, 285-298.
  • Litchfield K, Sultana R, Renwick A, Dudakia D, Seal S, Ramsay E, Powell S, Elliott A, Warren-Perry M, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J; UKTCC, Stratton MR, Easton DF, Bishop DT, Huddart RA, Rahman N, Turnbull C; UKTCC. (2015). Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25. Hum Mol Genet 24, 1169-1176.
  • Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, Johnson N, Ghoussaini M, Hopper JL, Southey MC, Apicella C, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Hogervorst FB, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Gibson L, Aitken Z, Warren H, Sawyer E, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Cordina-Duverger E, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Hamann U, Brauch H, Justenhoven C, Brüning T, Ko YD, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Bogdanova N, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G, Beesley J, Lambrechts D, Moisse M, Floris G, Beuselinck B, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Peissel B, Pensotti V, Couch FJ, Olson JE, Slettedahl S, Vachon C, Giles GG, Milne RL, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Kristensen V, Alnæs GG, Nord S, Borresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, Van Asperen CJ, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Klevebring D, Hooning MJ, Hollestelle (2015). Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum Mol Genet 24, 2966-2984.
  • Kabisch M, Lorenzo Bermejo J, Dünnebier T, Ying S, Michailidou K, Bolla MK, Wang Q, Dennis J, Shah M, Perkins BJ, Czene K, Darabi H, Eriksson M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Neven P, Peeters S, Weltens C, Couch FJ, Olson JE, Wang X, Purrington K, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, dos-Santos-Silva I, Johnson N, Fletcher O, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Schmidt MK, Broeks A, Cornelissen S, Hogervorst FB, Li J, Brand JS, Humphreys K, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marmé F, Yang R, Bugert P, González-Neira A, Benitez J, Pilar Zamora M, Arias Perez JI, Cox A, Cross SS, Reed MW, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N; kConFab Investigators; Australian Ovarian Cancer Study Group, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Kriege M, Koppert LB, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Slettedahl S, Toland AE, Vachon C, Yannoukakos D, Giles GG, Milne RL, McLean C, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Ashworth A, Orr N, Schoemaker MJ, Swerdlow A, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Brüning T, Ko YD; GENICA Network, Radice P, Peterlongo P, Scuvera G, Fortuzzi S, Bogdanova N, Dörk T, Mannerm (2015). Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer. Carcinogenesis 36, 256-271.
  • Fernandez-Navarro P1, González-Neira A, Pita G, Díaz-Uriarte R, Tais Moreno L, Ederra M, Pedraz-Pingarrón C, Sánchez-Contador C, Vázquez-Carrete JA, Moreo P, Vidal C, Salas-Trejo D, Stone J, Southey MC, Hopper JL, Pérez-Gómez B, Benitez J, Pollan M (2015). Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. Int J Cancer 136, 2427-2436.
  • Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Munday HR, Darabi H, Eriksson M, Brand JS, Olson J, Vachon CM, Hallberg E, Castelao JE, Carracedo A, Torres M, Li J, Humphreys K, Cordina-Duverger E, Menegaux F, Flyger H, Nordestgaard BG, Nielsen SF, Yesilyurt BT, Floris G, Leunen K, Engelhardt EG, Broeks A, Rutgers EJ, Glendon G, Mulligan AM, Cross S, Reed M, Gonzalez-Neira A, Arias Perez JI, Provenzano E, Apicella C, Southey MC, Spurdle A; kConFab Investigators; AOCS Group, Häberle L, Beckmann MW, Ekici AB, Dieffenbach AK, Arndt V, Stegmaier C, McLean C, Baglietto L, Chanock SJ, Lissowska J, Sherman ME, Brüning T, Hamann U, Ko YD, Orr N, Schoemaker M, Ashworth A, Kosma VM, Kataja V, Hartikainen JM, Mannermaa A, Swerdlow A; GENICA-Network, Giles GG, Brenner H, Fasching PA, Chenevix-Trench G, Hopper J, Benítez J, Cox A, Andrulis IL, Lambrechts D, Gago-Dominguez M, Couch F, Czene K, Bojesen SE, Easton DF, Schmidt MK, Guénel P, Hall P, Pharoah PD, Garcia-Closas M, Chang-Claude J (2015). Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. Int J Cancer 136, E685-E696.
  • Martín M, Martínez N, Ramos M, Calvo L, Lluch A, Zamora P, Muñoz M, Carrasco E, Caballero R, García-Sáenz JÁ, Guerra E, Caronia D, Casado A, Ruíz-Borrego M, Hernando B, Chacón JI, De la Torre-Montero JC, Jimeno MÁ, Heras L, Alonso R, De la Haba J, Pita G, Constenla M, González-Neira A (2015). Standard versus continuous administration of capecitabine in metastatic breast cancer (GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic analysis. Oncologist 20, 111-112.
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