Imperial College London

DrDavidCox

Faculty of MedicineSchool of Public Health

Honorary Research Associate
 
 
 
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d.cox

 
 
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Norfolk PlaceSt Mary's Campus

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Publications

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77 results found

Figlioli G, Bogliolo M, Catucci I, Caleca L, Viz Lasheras S, Pujol R, Kiiski J, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomaki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Barwell J, Freeman LEB, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova N, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Bruening T, Burwinkel B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Gayther SA, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guenel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Hakansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WGet al., 2019, The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer, npj Breast Cancer, Vol: 5, ISSN: 2374-4677

ArticleOpen AccessPublished: 01 November 2019The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerGisella Figlioli, Massimo Bogliolo, […]Paolo Peterlongo npj Breast Cancer volume 5, Article number: 38 (2019) Cite this articleArticle metrics937 Accesses22 AltmetricMetricsdetailsAbstractBreast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of trunca

Journal article

Barrdahl M, Canzian F, Joshi AD, Travis RC, Chang-Claude J, Auer PL, Gapstur SM, Gaudet M, Diver WR, Henderson BE, Haiman CA, Schumacher FR, Le Marchand L, Berg CD, Chanock SJ, Hoover RN, Rudolph A, Ziegler RG, Giles GG, Baglietto L, Severi G, Hankinson SE, Lindstroem S, Willet W, Hunter DJ, Buring JE, Lee I-M, Zhang S, Dossus L, Cox DG, Khaw K-T, Lund E, Naccarati A, Peeters PH, Ramon Quiros J, Riboli E, Sund M, Trichopoulos D, Prentice RL, Kraft P, Kaaks R, Campa Det al., 2014, Post-G WAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women, HUMAN MOLECULAR GENETICS, Vol: 23, Pages: 5260-5270, ISSN: 0964-6906

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Cox DG, 2014, The genetics of breast cancer susceptibility - Polymorphism and the prospect of their use in a clinical setting, ONCOLOGIE, Vol: 16, Pages: 445-448, ISSN: 1292-3818

Journal article

Prada D, Colicino E, Power MC, Cox DG, Weisskopf MG, Hou L, Spiro A, Vokonas P, Zhong J, Sanchez-Guerra M, Herrera LA, Schwartz J, Baccarelli AAet al., 2014, Influence of multiple APOE genetic variants on cognitive function in a cohort of older men - results from the Normative Aging Study, BMC PSYCHIATRY, Vol: 14

Journal article

Colicino E, Power MC, Cox DG, Weisskopf MG, Hou L, Alexeeff SE, Sanchez-Guerra M, Vokonas P, Spiro A, Schwartz J, Baccarelli AAet al., 2014, Mitochondrial haplogroups modify the effect of black carbon on age-related cognitive impairment, ENVIRONMENTAL HEALTH, Vol: 13, ISSN: 1476-069X

Journal article

Dossus L, Boutron-Ruault M-C, Kaaks R, Gram IT, Vilier A, Fervers B, Manjer J, Tjonneland A, Olsen A, Overvad K, Chang-Claude J, Boeing H, Steffen A, Trichopoulou A, Lagiou P, Sarantopoulou M, Palli D, Berrino F, Tumino R, Vineis P, Mattiello A, Bueno-de-Mesquita HB, van Duijnhoven FJB, Bakker MF, Peeters PHM, Weiderpass E, Bjerkaas E, Braaten T, Menendez V, Agudo A, Sanchez M-J, Amiano P, Tormo M-J, Barricarte A, Butt S, Khaw K-T, Wareham N, Key TJ, Travis RC, Rinaldi S, McCormack V, Romieu I, Cox DG, Norat T, Riboli E, Clavel-Chapelon Fet al., 2014, Active and passive cigarette smoking and breast cancer risk: Results from the EPIC cohort, INTERNATIONAL JOURNAL OF CANCER, Vol: 134, Pages: 1871-1888, ISSN: 0020-7136

Journal article

Sagne C, Marcel V, Bota M, Martel-Planche G, Nobrega A, Palmero EI, Perriaud L, Boniol M, Vagner S, Cox DG, Chan CS, Mergny J-L, Olivier M, Ashton-Prolla P, Hall J, Hainaut P, Achatz MIet al., 2014, Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures, CARCINOGENESIS, Vol: 35, Pages: 807-815, ISSN: 0143-3334

Journal article

Cox DG, Ragusa S, Pourtau L, Perrier L, Delaloge Set al., 2014, Cost-Effectiveness of a Genetic Test for Breast Cancer Risk-Letter, CANCER PREVENTION RESEARCH, Vol: 7, Pages: 475-475, ISSN: 1940-6207

Journal article

Blein S, Berndt S, Joshi AD, Campa D, Ziegler RG, Riboli E, Cox DGet al., 2014, Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium, FREE RADICAL RESEARCH, Vol: 48, Pages: 380-386, ISSN: 1071-5762

Journal article

Campa D, Barrdahl M, Tsilidis KK, Severi G, Diver WR, Siddiq A, Chanock S, Hoover RN, Ziegler RG, Berg CD, Buys SS, Haiman CA, Henderson BE, Schumacher FR, Le Marchand L, Flesch-Janys D, Lindstroem S, Hunter DJ, Hankinson SE, Willett WC, Kraft P, Cox DG, Khaw K-T, Tjonneland A, Dossus L, Trichopoulos D, Panico S, van Gils CH, Weiderpass E, Barricarte A, Sund M, Gaudet MM, Giles G, Southey M, Baglietto L, Chang-Claude J, Kaaks R, Canzian Fet al., 2014, A Genome-Wide "Pleiotropy Scan'' Does Not Identify New Susceptibility Loci for Estrogen Receptor Negative Breast Cancer, PLOS ONE, Vol: 9, ISSN: 1932-6203

Approximately 15–30% of all breast cancer tumors are estrogen receptor negative (ER2). Compared with ER-positive (ER+)disease they have an earlier age at onset and worse prognosis. Despite the vast number of risk variants identified fornumerous cancer types, only seven loci have been unambiguously identified for ER-negative breast cancer. With the aim ofidentifying new susceptibility SNPs for this disease we performed a pleiotropic genome-wide association study (GWAS). Weselected 3079 SNPs associated with a human complex trait or disease at genome-wide significance level (P,561028)toperform a secondary analysis of an ER-negative GWAS from the National Cancer Institute’s Breast and Prostate CancerCohort Consortium (BPC3), including 1998 cases and 2305 controls from prospective studies. We then tested the top tenassociations (i.e. with the lowest P-values) using three additional populations with a total sample size of 3509 ER+cases,2543 ER2cases and 7031 healthy controls. None of the 3079 selected variants in the BPC3 ER-GWAS were significant at theadjusted threshold. 186 variants were associated with ER2breast cancer risk at a conventional threshold of P,0.05, with P-values ranging from 0.049 to 2.361024. None of the variants reached statistical significance in the replication phase. Inconclusion, this study did not identify any novel susceptibility loci for ER-breast cancer using a ‘‘pleiotropic approach’’.

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Veron A, Blein S, Cox DG, 2014, Genome-wide association studies and the clinic: a focus on breast cancer, BIOMARKERS IN MEDICINE, Vol: 8, Pages: 287-296, ISSN: 1752-0363

Journal article

Lee H-J, Wu K, Cox DG, Hunter D, Hankinson SE, Willett WC, Sinha R, Cho Eet al., 2013, Polymorphisms in Xenobiotic Metabolizing Genes, Intakes of Heterocyclic Amines and Red Meat, and Postmenopausal Breast Cancer, NUTRITION AND CANCER-AN INTERNATIONAL JOURNAL, Vol: 65, Pages: 1122-1131, ISSN: 0163-5581

Journal article

Backes DM, Siddiq A, Cox DG, Calboli FCF, Gaziano JM, Ma J, Stampfer M, Hunter DJ, Camargo CA, Michaud DSet al., 2013, Single-nucleotide polymorphisms of allergy-related genes and risk of adult glioma, JOURNAL OF NEURO-ONCOLOGY, Vol: 113, Pages: 229-238, ISSN: 0167-594X

Journal article

Michaud DS, Siddiq A, Cox DG, Backes DM, Calboli FCF, Sughrue ME, Gaziano JM, Ma J, Stampfer M, Tworoger SS, Hunter DJ, Camargo CA, Parsa ATet al., 2013, Mannose-Binding Lectin 2 Gene and Risk of Adult Glioma, PLOS ONE, Vol: 8, ISSN: 1932-6203

Journal article

Al Olama AA, Kote-Jarai Z, Schumacher FR, Wiklund F, Berndt SI, Benlloch S, Giles GG, Severi G, Neal DE, Hamdy FC, Donovan JL, Hunter DJ, Henderson BE, Thun MJ, Gaziano M, Giovannucci EL, Siddiq A, Travis RC, Cox DG, Canzian F, Riboli E, Key TJ, Andriole G, Albanes D, Hayes RB, Schleutker J, Auvinen A, Tammela TLJ, Weischer M, Stanford JL, Ostrander EA, Cybulski C, Lubinski J, Thibodeau SN, Schaid DJ, Sorensen KD, Batra J, Clements JA, Chambers S, Aitken J, Gardiner RA, Maier C, Vogel W, Doerk T, Brenner H, Habuchi T, Ingles S, John EM, Dickinson JL, Cannon-Albright L, Teixeira MR, Kaneva R, Zhang H-W, Lu Y-J, Park JY, Cooney KA, Muir KR, Leongamornlert DA, Saunders E, Tymrakiewicz M, Mahmud N, Guy M, Govindasami K, O'Brien LT, Wilkinson RA, Hall AL, Sawyer EJ, Dadaev T, Morrison J, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As N, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatonanon A, Southey MC, Hopper JL, English D, Virtamo J, Le Marchand L, Campa D, Kaaks R, Lindstrom S, Diver WR, Gapstur S, Yeager M, Cox A, Stern MC, Corral R, Aly M, Isaacs W, Adolfsson J, Xu J, Zheng SL, Wahlfors T, Taari K, Kujala P, Klarskov P, Nordestgaard BG, Roder MA, Frikke-Schmidt R, Bojesen SE, FitzGerald LM, Kolb S, Kwon EM, Karyadi DM, Orntoft TF, Borre M, Rinckleb A, Luedeke M, Herkommer K, Meyer A, Serth J, Marthick JR, Patterson B, Wokolorczyk D, Spurdle A, Lose F, McDonnell SK, Joshi AD, Shahabi A, Pinto P, Santos J, Ray A, Sellers TA, Lin H-Y, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Tsuchiya N, Narita S, Cao G-W, Slavov C, Mitev V, Chanock S, Gronberg H, Haiman CA, Kraft P, Easton DF, Eeles RAet al., 2013, A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease, HUMAN MOLECULAR GENETICS, Vol: 22, Pages: 408-415, ISSN: 0964-6906

Journal article

Coviello AD, Haring R, Wellons M, Vaidya D, Lehtimaki T, Keildson S, Lunetta KL, He C, Fornage M, Lagou V, Mangino M, Onland-Moret NC, Chen B, Eriksson J, Garcia M, Mei Y, Koster A, Lohman K, Lyytikainen L-P, Petersen A-K, Prescott J, Stolk L, Vandenput L, Wood AR, Zhuang WV, Ruokonen A, Hartikainen A-L, Pouta A, Bandinelli S, Biffar R, Brabant G, Cox DG, Chen Y, Cummings S, Ferrucci L, Gunter MJ, Hankinson SE, Martikainen H, Hofman A, Homuth G, Illig T, Jansson J-O, Johnson AD, Karasik D, Karlsson M, Kettunen J, Kiel DP, Kraft P, Liu J, Ljunggren O, Lorentzon M, Maggio M, Markus MRP, Mellstrom D, Miljkovic I, Mirel D, Nelson S, Papunen LM, Peeters PHM, Prokopenko I, Raffel L, Reincke M, Reiner AP, Rexrode K, Rivadeneira F, Schwartz SM, Siscovick D, Soranzo N, Stockl D, Tworoger S, Uitterlinden AG, van Gils CH, Vasan RS, Wichmann H-E, Zhai G, Bhasin S, Bidlingmaier M, Chanock SJ, De Vivo I, Harris TB, Hunter DJ, Kahonen M, Liu S, Ouyang P, Spector TD, van der Schouw YT, Viikari J, Wallaschofski H, McCarthy MI, Frayling TM, Murray A, Franks S, Jarvelin M-R, de Jong FH, Raitakari O, Teumer A, Ohlsson C, Murabito JM, Perry JRBet al., 2012, A Genome-Wide Association Meta-Analysis of Circulating Sex Hormone-Binding Globulin Reveals Multiple Loci Implicated in Sex Steroid Hormone Regulation, PLOS Genetics, Vol: 8, ISSN: 1553-7390

Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroidhormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes(T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide associationstudy (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBGconcentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.86102106), PRMT6 (rs17496332, 1p13.3,p = 1.4610211), GCKR (rs780093, 2p23.3,p= 2.2610216), ZBTB10 (rs440837, 8q21.13,p= 3.4610209), JMJD1C (rs7910927, 10q21.3,p = 6.1610235), SLCO1B1 (rs4149056, 12p12.1, p= 1.9610208), NR2F2 (rs8023580, 15q26.2, p= 8.3610212), ZNF652 (rs2411984,17q21.32, p= 3.5610214), TDGF3 (rs1573036, Xq22.3, p= 4.1610214), LHCGR (rs10454142, 2p16.3, p= 1.3610207), BAIAP2L1(rs3779195, 7q21.3, p= 2.7610208), and UGT2B15 (rs293428, 4q13.2, p= 5.5610206). These genes encompass multiple biologicpathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptorfunction, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer.We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 wassignificant in men only (men p = 2.5610208, women p = 0.66, heterogeneity p = 0.003). Additionally, three loci showed strongsex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger inwomen. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion ofvariance explained at the locus. Using an independent study of 1,129 individual

Journal article

Prescott J, Thompson DJ, Kraft P, Chanock SJ, Audley T, Brown J, Leyland J, Folkerd E, Doody D, Hankinson SE, Hunter DJ, Jacobs KB, Dowsett M, Cox DG, Easton DF, De Vivo Iet al., 2012, Genome-Wide Association Study of Circulating Estradiol, Testosterone, and Sex Hormone-Binding Globulin in Postmenopausal Women, PLOS ONE, Vol: 7, ISSN: 1932-6203

Journal article

Teo MTW, Landi D, Taylor CF, Elliott F, Vaslin L, Cox DG, Hall J, Landi S, Bishop DT, Kiltie AEet al., 2012, The role of microRNA-binding site polymorphisms in DNA repair genes as risk factors for bladder cancer and breast cancer and their impact on radiotherapy outcomes, CARCINOGENESIS, Vol: 33, Pages: 581-586, ISSN: 0143-3334

Journal article

Postel-Vinay S, Veron AS, Tirode F, Pierron G, Reynaud S, Kovar H, Oberlin O, Lapouble E, Ballet S, Lucchesi C, Kontny U, Gonzalez-Neira A, Picci P, Alonso J, Patino-Garcia A, de Paillerets BB, Laud K, Dina C, Froguel P, Clavel-Chapelon F, Doz F, Michon J, Chanock SJ, Thomas G, Cox DG, Delattre Oet al., 2012, Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma, NATURE GENETICS, Vol: 44, Pages: 323-U133, ISSN: 1061-4036

Journal article

Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL, Thomassen M, Gerdes A-M, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg A, Karlsson P, Askmalm MS, Bustinza GB, Nathanson KL, Domchek SM, Rebbeck TR, Benitez J, Hamann U, Rookus MA, van den Ouweland AMW, Ausems MGEM, Aalfs CM, van Asperen CJ, Devilee P, Gille HJJP, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Paterson J, Eason J, Godwin AK, Remon M-A, Moncoutier V, Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger F, de Paillerets BB, Caron O, Delnatte C, Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB, Singer CF, Dressler A-C, Tea M-K, Hansen TVO, Johannsson O, Piedmonte M, Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I, Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise R, Nevanlinna H, Chen X, Beesley J, Spurdle AB, Neuhausen SL, Ding YC, Couch FJ, Wang X, Peterlongo P, Manoukian S, Bernard L, Radice P, Easton DF, Chenevix-Trench G, Antoniou AC, Stoppa-Lyonnet D, Mazoyer S, Sinilnikova OMet al., 2011, Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers, HUMAN MOLECULAR GENETICS, Vol: 20, Pages: 4732-4747, ISSN: 0964-6906

Journal article

Cox DG, Dostal L, Hunter DJ, Le Marchand L, Hoover R, Ziegler RG, Thun MJet al., 2011, N-Acetyltransferase 2 Polymorphisms, Tobacco Smoking, and Breast Cancer Risk in the Breast and Prostate Cancer Cohort Consortium, AMERICAN JOURNAL OF EPIDEMIOLOGY, Vol: 174, Pages: 1316-1322, ISSN: 0002-9262

Journal article

Calboli FCF, Cox DG, Buring JE, Gaziano JM, Ma J, Stampfer M, Willett WC, Tworoger SS, Hunter DJ, Camargo CA, Michaud DSet al., 2011, Prediagnostic Plasma IgE Levels and Risk of Adult Glioma in Four Prospective Cohort Studies, JOURNAL OF THE NATIONAL CANCER INSTITUTE, Vol: 103, Pages: 1588-1595, ISSN: 0027-8874

Journal article

Garcia AI, Cox DG, Barjhoux L, Verny-Pierre C, Barnes D, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer Set al., 2011, The rs2910164:G > C SNP in the MIR146A Gene is Not Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, HUMAN MUTATION, Vol: 32, Pages: 1004-1007, ISSN: 1059-7794

Journal article

Campa D, Huesing A, Stein A, Dostal L, Boeing H, Pischon T, Tjonneland A, Roswall N, Overvad K, Ostergaard JN, Rodriguez L, Sala N, Sanchez M-J, Larranaga N, Maria Huerta J, Barricarte A, Khaw K-T, Wareham N, Travis RC, Allen NE, Lagiou P, Trichopoulou A, Trichopoulos D, Palli D, Sieri S, Tumino R, Sacerdote C, van Kranen H, Bueno-de-Mesquita HB, Hallmans G, Johansson M, Romieu I, Jenab M, Cox DG, Siddiq A, Riboli E, Canzian F, Kaaks Ret al., 2011, Genetic Variability of the mTOR Pathway and Prostate Cancer Risk in the European Prospective Investigation on Cancer (EPIC), PLOS One, Vol: 6, ISSN: 1932-6203

The mTOR (mammalian target of rapamycin) signal transduction pathway integrates various signals, regulating ribosomebiogenesis and protein synthesis as a function of available energy and amino acids, and assuring an appropriate coupling ofcellular proliferation with increases in cell size. In addition, recent evidence has pointed to an interplay between the mTORand p53 pathways. We investigated the genetic variability of 67 key genes in the mTOR pathway and in genes of the p53pathway which interact with mTOR. We tested the association of 1,084 tagging SNPs with prostate cancer risk in a study of815 prostate cancer cases and 1,266 controls nested within the European Prospective Investigation into Cancer andNutrition (EPIC). We chose the SNPs (n = 11) with the strongest association with risk (p,0.01) and sought to replicate theirassociation in an additional series of 838 prostate cancer cases and 943 controls from EPIC. In the joint analysis of first andsecond phase two SNPs of the PRKCI gene showed an association with risk of prostate cancer (ORallele = 0.85, 95% CI 0.78–0.94, p = 1.361023 for rs546950 and ORallele = 0.84, 95% CI 0.76–0.93, p = 5.661024 for rs4955720). We confirmed this in ameta-analysis using as replication set the data from the second phase of our study jointly with the first phase of the CancerGenetic Markers of Susceptibility (CGEMS) project. In conclusion, we found an association with prostate cancer risk for twoSNPs belonging to PRKCI, a gene which is frequently overexpressed in various neoplasms, including prostate cancer.

Journal article

Beckmann L, Husing A, Setiawan VW, Amiano P, Clavel-Chapelon F, Chanock SJ, Cox DG, Diver R, Dossus L, Feigelson HS, Haiman C, Hallmans G, Hayes RB, Henderson BE, Hoover RN, Hunter DJ, Khaw K, Kolonel LN, Kraft P, Lund E, Le Marchand L, Peeters PHM, Riboli E, Stram D, Thomas G, Thun MJ, Tumino R, Trichopoulos D, Vogel U, Willett WC, Yeager M, Ziegler R, Hankinson SE, Kaaks Ret al., 2011, Comprehensive Analysis of Hormone and Genetic Variation in 36 Genes Related to Steroid Hormone Metabolism in Pre- and Postmenopausal Women from the Breast and Prostate Cancer Cohort Consortium (BPC3), JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, Vol: 96, Pages: E360-E367, ISSN: 0021-972X

Journal article

Canzian F, Cox DG, Setiawan VW, Stram DO, Ziegler RG, Dossus L, Beckmann L, Blanche H, Barricarte A, Berg CD, Bingham S, Buring J, Buys SS, Calle EE, Chanock SJ, Clavel-Chapelon F, DeLancey JOL, Diver WR, Dorronsoro M, Haiman CA, Hallmans G, Hankinson SE, Hunter DJ, Huesing A, Isaacs C, Khaw K-T, Kolonel LN, Kraft P, Le Marchand L, Lund E, Overvad K, Panico S, Peeters PHM, Pollak M, Thun MJ, Tjonneland A, Trichopoulos D, Tumino R, Yeager M, Hoover RN, Riboli E, Thomas G, Henderson BE, Kaaks R, Feigelson HSet al., 2010, Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium, HUMAN MOLECULAR GENETICS, Vol: 19, Pages: 3873-3884, ISSN: 0964-6906

Journal article

Wacholder S, Hartge P, Prentice R, Garcia-Closas M, Feigelson HS, Diver WR, Thun MJ, Cox DG, Hankinson SE, Kraft P, Rosner B, Berg CD, Brinton LA, Lissowska J, Sherman ME, Chlebowski R, Kooperberg C, Jackson RD, Buckman DW, Hui P, Pfeiffer R, Jacobs KB, Thomas GD, Hoover RN, Gail MH, Chanock SJ, Hunter DJet al., 2010, Performance of Common Genetic Variants in Breast-Cancer Risk Models., NEW ENGLAND JOURNAL OF MEDICINE, Vol: 362, Pages: 986-993, ISSN: 0028-4793

Journal article

Dossus L, Kaaks R, Canzian F, Albanes D, Berndt SI, Boeing H, Buring J, Chanock SJ, Clavel-Chapelon F, Feigelson HS, Gaziano JM, Giovannucci E, Gonzalez C, Haiman CA, Hallmans G, Hankinson SE, Hayes RB, Henderson BE, Hoover RN, Hunter DJ, Khaw K-T, Kolonel LN, Kraft P, Ma J, Le Marchand L, Lund E, Peeters PHM, Stampfer M, Stram DO, Thomas G, Thun MJ, Tjonneland A, Trichopoulos D, Tumino R, Riboli E, Virtamo J, Weinstein SJ, Yeager M, Ziegler RG, Cox DGet al., 2010, PTGS2 and IL6 genetic variation and risk of breast and prostate cancer: results from the Breast and Prostate Cancer Cohort Consortium (BPC3), CARCINOGENESIS, Vol: 31, Pages: 455-461, ISSN: 0143-3334

Journal article

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