Human Genotyping-CEGEN Unit

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Graduate Students

  • Alejandro Velasco

Technicians

  • Rosario Alonso
  • Nuria Álvarez
  • Belén Herráez
  • Rocío Núñez
  • Guillermo Pita
  • Hugo Tejera

In the Unit we implement high-throughput methods for detection of genetic variation (single nucleotide variants, indels, structural variants) and methylation analysis using DNA microarray and next-generation DNA sequencing technologies. Complementarily, research focused on identifying predictive biomarkers for precision medicine is undertaken.

Publications

  • Patiño-García A, Guruceaga E, Segura V, Sánchez Bayona R, Andueza MP, Tamayo Uria I, Serrano G, Fusco JP, Pajares MJ, Gurpide A, Ocón M, Sanmamed MF, Rodriguez Ruiz M, Melero I, Lozano MD, de Andrea C, Pita G, Gonzalez-Neira A, Gonzalez A, Zulueta JJ, Montuenga LM, Pio R, Perez-Gracia JL. (2021). Whole exome sequencing characterization of individuals presenting extreme phenotypes of high and low risk of developing tobacco-induced lung adenocarcinoma. Transl Lung Cancer Res 10, 1327-1337. CNIO Publication.
  • Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. (2021). Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun 12, 2986. CNIO Publication.
  • Park J, Choi JY, Choi J, Chung S, Song N, Park SK, Han W, Noh DY, Ahn SH, Lee JW, Kim MK, Jee SH, Wen W, Bolla MK, Wang Q, Dennis J, Michailidou K, Shah M, Conroy DM, Harrington PA, Mayes R, Czene K, Hall P, Teras LR, Patel AV, Couch FJ, Olson JE, Sawyer EJ, Roylance R, Bojesen SE, Flyger H, Lambrechts D, Baten A, Matsuo K, Ito H, Guénel P, Truong T, Keeman R, Schmidt MK, Wu AH, Tseng CC, Cox A, Cross SS, kConFab Investigators, Andrulis IL, Hopper JL, Southey MC, Wu PE, Shen CY, Fasching PA, Ekici AB, Muir K, Lophatananon A, Brenner H, Arndt V, Jones ME, Swerdlow AJ, Hoppe R, Ko YD, Hartman M, Li J, Mannermaa A, Hartikainen JM, Benitez J, González-Neira A, Haiman CA, Dörk T, Bogdanova NV, Teo SH, Mohd Taib NA, Fletcher O, Johnson N, Grip M, Winqvist R, Blomqvist C, Nevanlinna H, Lindblom A, Wendt C, Kristensen VN, Nbcs Collaborators, Tollenaar RAEM, Heemskerk-Gerritsen BAM, Radice P, Bonanni B, Hamann U, Manoochehri M, Lacey JV, Martinez ME, Dunning AM, Pharoah PDP, Easton DF, Yoo KY, Kang D (2021). Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?. Cancers 13, 2370. CNIO Publication.
  • Ruiz-Pinto S, Pita G, Martín M, Nunez-Torres R, Cuadrado A, Shahbazi MN, Caronia D, Kojic A, Moreno LT, de la Torre-Montero JC, Lozano M, López-Fernández LA, Ribelles N, García-Saenz JA, Alba E, Milne RL, Losada A, Pérez-Moreno M, Benítez J, González-Neira A (2021). Regulatory CDH4 genetic variants associate with risk to develop capecitabine-induced hand-foot syndrome.. Clin Pharmacol Ther 109, 462-470. CNIO Publication.
  • Park HA, Neumeyer S, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brucker SY, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grip M, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Han S, Harkness EF, Hart SN, He W, Heemskerk-Gerritsen BAM, Hopper JL, Hunter DJ; ABCTB Investigators; kConFab Investigators, Jager A, Jakubowska A, John EM, Jung A, Kaaks R, Kapoor PM, Keeman R, Khusnutdinova E, Kitahara CM, Koppert LB, Koutros S, Kristensen VN, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lo WY, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Meindl A, Menon U, Milne RL, Muranen TA, Nevanlinna H, Newman WG, Nordestgaard BG, Offit K, Olshan AF, Olsson H, Park-Simon TW, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Radice P, Rennert G, Rennert HS, Romero A, Saloustros E, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Smeets A, Southey MC, Spinelli JJ, Stevens V, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Vijai J, Wang S, Wendt C, Winqvist R, Wolk A, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Zheng W, Kraft P, Chang-Claude J. (2021). Mendelian randomisation study of smoking exposure in relation to breast cancer risk. Br J Cancer 125, 1135-1145. CNIO Publication.
  • Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á, Dopazo J (2021). CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res 49, D1130-D1137. CNIO Publication. Open Access Open Access
  • Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF. (2021). Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women.. New Engl J Med 384, 428-439. CNIO Publication.
  • Johnson N, Maguire S, Morra A, Kapoor PM, Tomczyk K, Jones ME, Schoemaker MJ, Gilham C, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baynes C, Freeman LEB, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Dörk T, Eliassen AH, Engel C, Evans DG, Fasching PA, Figueroa J, Floris G, Flyger H, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Giles GG, Goldberg MS, González-Neira A; AOCS Group, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, Hooning MJ, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab Investigators, Jager A, Jakubowska A, John EM, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Linet M, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mavroudis D, Mayes R, Meindl A, Milne RL, Neuhausen SL, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Obi N, Olshan AF, Olson JE, Olsson H, Orban E, Park-Simon TW, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Rennert HS, Ruddy KJ, Saloustros E, Sandler DP, Sawyer EJ, Schmutzler RK, Scott C, Shu XO, Simard J, Smichkoska S, Sohn C, Southey MC, Spinelli JJ, Stone J, Tamimi RM, Taylor JA, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Wang SS, Weinberg CR, Wendt C, Wildiers H, Winqvist R, Wolk A, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Howie AF, Peto J, Dos-Santos-Silva I, Swerdlow AJ, Chang-Claude J, Schmidt MK, Orr N, Fletcher O (2021). CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. Br J Cancer 124, 842-854. CNIO Publication.
  • Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á, Dopazo J (2021). CSVS, a crowdsourcing database of the Spanish population genetic variability.. Nucleic Acids Res 49, D1130-D1137. CNIO Publication. Open Access Open Access
  • MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab/AOCS Investigators, John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Marchand LL, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J. (2020). Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk. J Natl Cancer I (in press). CNIO Publication. Open Access Open Access
  • Fachal L et al. (incl. Benítez J, González-Neira A) (2020). Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet 52, 56-73. CNIO Publication.
  • Escala-Garcia M et al. (incl. Benitez J, González-Neira A) (2020). A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.. Nat Commun 11, 312. CNIO Publication. Open Access Open Access
  • Barnes DR et al. (incl. Benitez J, González-Neira ) (2020). Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med 22, 1653-1666. CNIO Publication.
  • Núñez-Torres R, Martín M, García-Sáenz JÁ, Rodrigo-Faus M, Del Monte-Millán M, Tejera-Pérez H, Pita G, de la Torre-Montero JC, Pinilla K, Herraez B, Peiró-Chova L, Bermejo B, Lluch A, González-Neira A (2020). Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer. JAMA Dermatol 156, 987-991. CNIO Publication.
  • Lin SH et al. (incl. González-Neira A ) (2020). Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.. PLoS One 15, e0237792. CNIO Publication. Open Access Open Access
  • Kramer I, Hooning MJ, Mavaddat N, Hauptmann M, Keeman R, Steyerberg EW, Giardiello D, Antoniou AC, Pharoah PDP, Canisius S, Abu-Ful Z, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Bremer M, Brucker SY, Burwinkel B, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Choi JY, Clarke CL; NBCS Collaborators, Collée JM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Evans DG, Fasching PA, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Giles GG, Goldgar DE, González-Neira A, Haiman CA, Håkansson N, Hamann U, Hartman M, Heemskerk-Gerritsen BAM, Hollestelle A, Hopper JL, Hou MF, Howell A; ABCTB Investigators; kConFab Investigators, Ito H, Jakimovska M, Jakubowska A, Janni W, John EM, Jung A, Kang D, Kets CM, Khusnutdinova E, Ko YD, Kristensen VN, Kurian AW, Kwong A, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Meindl A, Milne RL, Mulligan AM, Muranen TA, Neuhausen SL, Nevanlinna H, Newman WG, Olshan AF, Olson JE, Olsson H, Park-Simon TW, Peto J, Petridis C, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Radice P, Rennert G, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmutzler RK, Schwentner L, Scott C, See MH, Shah M, Shen CY, Shu XO, Siesling S, Slager S, Sohn C, Southey MC, Spinelli JJ, Stone J, Tapper WJ, Tengström M, Teo SH, Terry MB, Tollenaar RAEM, Tomlinson I, Troester MA, Vachon CM, van Ongeval C, van Veen EM, Winqvist R, Wolk A, Zheng W, Ziogas A, Easton DF, Hall P, Schmidt MK. (2020). Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. Am J Hum Genet 107, 837-848. CNIO Publication.
  • Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL; EMBRACE Collaborators; GC-HBOC Study Collaborators; GEMO Study Collaborators, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez 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, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hoover RN, Hopper JL, Hulick PJ, Humphreys K, Imyanitov EN; ABCTB Investigators; HEBON Investigators; BCFR Investigators, Isaacs C, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Karlan BY, Khusnutdinova E, Kiiski JI, Ko YD, Jones ME, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindström S, Long J, Loud JT, Lubinski J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Pharoah PDP, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch HA, Saloustros E, Sanden K, Sawyer EJ, Schmidt MK, Schmutzler RK, Sharma P, Shu XO, Simard J, Singer CF, 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, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Kraft P, Antoniou AC, Zheng W, Easton DF, Milne RL, Beesley J, Chenevix-Trench G (2019). Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun 10, 1741. CNIO Publication. Open Access Open Access
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  • Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons MT, Li H, De Vecchi G, Tudini E, Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J, Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong T, van Asperen CJ, van den Ouweland AMW, van der Kolk LE, Winqvist R, Yannoukakos D, Zheng W; kConFab/AOCS Investigators, Dunning AM, Easton DF, Henderson A, Hogervorst FBL, Izatt L, Offitt K, Side LE, van Rensburg EJ, Embrace S, Hebon S, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Goldgar DE, Hoya M, Radice P (2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Hum Mutat 39, 729-741. CNIO Publication.
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  • 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. CNIO Publication.
  • 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). CNIO Publication. Open Access Open Access
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  • Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM; ABCTB Investigators, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH; 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kConFab/AOCS Investigators, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL; NBSC Collaborators, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, Osorio A, Pankratz VS, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Lloyd R, Pedersen IS, Peissel B, Peixoto A, Perez JIA, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Pinchev M, Plaseska-Karanfilska D, Poppe B, Porteous ME, Prentice R, Presneau N, Prokofieva D, Pugh E, Pujana MA, Pylkäs K, Rack B, Radice P, Rahman N, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rennert HS, Rhenius V, Rhiem K, Richardson A, Rodriguez GC, Romero A, Romm J, Rookus MA, Rudolph A, Ruediger T, Saloustros E, Sanders J, Sandler DP, Sangrajrang S, Sawyer EJ, Schmidt DF, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seal S, Senter L, Seynaeve C, Shah M, Sharma P, Shen CY, Sheng X, Shimelis H, Shrubsole MJ, Shu XO, Side LE, Singer CF, Sohn C, Southey MC, Spinelli JJ, Spurdle AB, Stegmaier C, Stoppa-Lyonnet D, Sukiennicki G, Surowy H, Sutter C, Swerdlow A, Szabo CI, Tamimi RM, Tan YY, Taylor JA, Tejada MI, Tengström M, Teo SH, Terry MB, Tessier DC, Teulé A, Thöne K, Thull DL, Tibiletti MG, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Tong L, Torres D, Tranchant M, Truong T, Tucker K, Tung N, Tyrer J, Ulmer HU, Vachon C, van Asperen CJ, Van Den Berg D, van den Ouweland AMW, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vega A, Viel A, Vijai J, Vincent D, Vollenweider J, Walker L, Wang Z, Wang-Gohrke S, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wesseling J, Whittemore AS, Wijnen JT, Willett W, Winqvist R, Wolk A, Wu AH, Xia L, Yang XR, Yannoukakos D, Zaffaroni D, Zheng W, Zhu B, Ziogas A, Ziv E, Zorn KK, Gago-Dominguez M, Mannermaa A, Olsson H, Teixeira MR, Stone J, Offit K, Ottini L, Park SK, Thomassen M, Hall P, Meindl A, Schmutzler RK, Droit A, Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, Simard J. 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