Human Cancer Genetics Programme

Human Genetics Group

Group Leader:  Javier Benítez
Publications in the last five years
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  • Gayarre J, Martín-Gimeno P, Osorio A, Paumard B, Barroso A, Fernández V, de la Hoya M, Rojo A, Caldés T, Palacios J, Urioste M, Benítez J, García MJ (2017). Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. Br J Cancer 117, 1048-1062.
  • Brouckaert O, Rudolph A, Laenen A, Keeman R, Bolla MK, Wang Q, Soubry A, Wildiers H, Andrulis IL, Arndt V, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Brauch H, Brennan P, Brenner H, Chenevix-Trench G, Choi JY, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Eriksson M, Fasching PA, Figueroa J, Flyger H, Giles GG, González-Neira A, Guénel P, Hall P, Hollestelle A, Hopper JL, Ito H, Jones M, Kang D; kConFab, Knight JA, Kosma VM, Li J, Lindblom A, Lilyquist J, Lophatananon A, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Muir K, Nevanlinna H, Peterlongo P, Pylkäs K, Saajrang S, Seynaeve C, Shen CY, Shu XO, Southey MC, Swerdlow A, Teo SH, Tollenaar RAEM, Truong T, Tseng CC, van den Broek AJ, van Deurzen CHM, Winqvist R, Wu AH, Yip CH, Yu JC, Zheng W, Milne RL, Pharoah PDP, Easton DF, Schmidt MK, Garcia-Closas M, Chang-Claude J, Lambrechts D, Neven P (2017). Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study. Breast Cancer Res 19, 119-.
  • Glubb DM, Johnatty SE, Quinn MCJ, O'Mara TA, Tyrer JP, Gao B, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Velez Edwards DR, Beeghly-Fadiel A, Benitez J, Garcia MJ, Goodman MT, Thompson PJ, Dörk T, Dürst M, Modungo F, Moysich K, Heitz F, du Bois A, Pfisterer J, Hillemanns P, Karlan BY, Lester J, Goode EL, Cunningham JM, Winham SJ, Larson MC, McCauley BM, Kjær SK, Jensen A, Schildkraut JM, Berchuck A, Cramer DW, Terry KL, Salvesen HB, Bjorge L, Webb PM, Grant P, Pejovic T, Moffitt M, Hogdall CK, Hogdall E, Paul J, Glasspool R, Bernardini M, Tone A, Huntsman D, Woo M, Group A, deFazio A, Kennedy CJ, Pharoah PDP, MacGregor S, Chenevix-Trench G. (2017). Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci. Oncotarget 8, 64670-64684.
  • Calvete O, Herraiz M, Reyes J, Patiño A, Benitez J (2017). A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis. Gastric Cancer 20, 998-1003.
  • Calvete O, Garcia-Pavia P, Domínguez F, Bougeard G, Kunze K, Braeuninger A, Teule A, Lasa A, Ramón Y Cajal T, Llort G, Fernández V, Lázaro C, Urioste M, Benitez J. (2017). The wide spectrum of POT1 gene variants correlates with multiple cancer types. Eur J Hum Genet 25, 1278-1281.
  • Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE, Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, Hogervorst FB; HEBON, Lazaro C, Jakubowska A, Montagna M; KConFab Investigators, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB (2017). Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet 25, 432-438.
  • Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A (2017). Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. Breast Cancer Res Treat 161, 117-134.
  • Ruiz-Pinto S, Pita G, Patiño-García A, Alonso J, Pérez-Martínez A, Cartón AJ, Gutiérrez-Larraya F, Alonso MR, Barnes DR, Dennis J, Michailidou K, Gómez-Santos C, Thompson DJ, Easton DF, Benítez J, González-Neira A (2017). Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer. Pharmacogenet Genomics 27, 445-453.
  • Ovarian Tumor Tissue Analysis (OTTA) Consortium, Goode EL, Block MS, Kalli KR, Vierkant RA, Chen W, Fogarty ZC, Gentry-Maharaj A, Toloczko A, Hein A, Bouligny AL, Jensen A, Osorio A, Hartkopf AD, Ryan A, Chudecka-Glaz A, Magliocco AM, Hartmann A, Jung AY, Gao B, Hernandez BY, Fridley BL, McCauley BM, Kennedy CJ, Wang C, Karpinskyj C, de Sousa CB, Tiezzi DG, Wachter DL, Herpel E, Taran FA, Modugno F, Nelson G, Lubinski J, Menkiszak J, Alsop J, Lester J, García-Donas J, Nation J, Hung J, Palacios J, Rothstein JH, Kelley JL, de Andrade JM, Robles-Díaz L, Intermaggio MP, Widschwendter M, Beckmann MW, Ruebner M, Jimenez-Linan M, Singh N, Oszurek O, Harnett PR, Rambau PF, Sinn P, Wagner P, Ghatage P, Sharma R, Edwards RP, Ness RB, Orsulic S, Brucker SY, Johnatty SE, Longacre TA, Eilber U, McGuire V, Sieh W, Natanzon Y, Li Z, Whittemore AS, deFazio A, Staebler A, Karlan BY, Gilks B, Bowtell DD, Høgdall E, Candido Dos Reis FJ, Steed H, Campbell IG, Gronwald J, Benítez J, Koziak JM, Chang-Claude J, Moysich KB, Kelemen LE, Cook LS, Goodman MT, García MJ, Fasching PA, Kommoss S, Deen S, Kjaer SK, Menon U, Brenton JD, Pharoah PDP, Chenevix-Trench G, Huntsman DG, Winham SJ, Köbel M, Ramus SJ. (2017). Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer. JAMA ONCOLOGY 3, e173290-.
  • Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S, Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S, Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Ja (2016). Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet 48, 374-386.
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