Recent submissions

  • Blood lipids and prostate cancer: a Mendelian randomization analysis. 

    Bull, CJ; Bonilla, C; Holly, JM; Perks, CM; Davies, N; Haycock, P; Yu, OH; Richards, JB; Eeles, R; Easton, D; Kote-Jarai, Z; Amin Al Olama, A; Benlloch, S; Muir, K; Giles, GG; MacInnis, RJ; Wiklund, F; Gronberg, H; Haiman, CA; Schleutker, J; Nordestgaard, BG; Travis, RC; Neal, D; Pashayan, N; Khaw, KT; Stanford, JL; Blot, WJ; Thibodeau, S; Maier, C; Kibel, AS; Cybulski, C; Cannon-Albright, L; Brenner, H; Park, J; Kaneva, R; Batra, J; Teixeira, MR; Micheal, A; Pandha, H; Smith, GD; Lewis, SJ; Martin, RM
    Genetic risk scores were used as unconfounded instruments for specific lipid traits (Mendelian randomization) to assess whether circulating lipids causally influence prostate cancer risk. Data from 22,249 prostate cancer ...
  • Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. 

    Silvestri, V; Barrowdale, D; Mulligan, AM; Neuhausen, SL; Fox, S; Karlan, BY; Mitchell, G; James, P; Thull, DL; Zorn, KK; Carter, NJ; Nathanson, KL; Domchek, SM; Rebbeck, TR; Ramus, SJ; Nussbaum, RL; Olopade, OI; Rantala, J; Yoon, SY; Caligo, MA; Spugnesi, L; Bojesen, A; Pedersen, IS; Thomassen, M; Jensen, UB; Toland, AE; Senter, L; Andrulis, IL; Glendon, G; Hulick, PJ; Imyanitov, EN; Greene, MH; Mai, PL; Singer, CF; Rappaport-Fuerhauser, C; Kramer, G; Vijai, J; Offit, K; Robson, M; Lincoln, A; Jacobs, L; Machackova, E; Foretova, L; Navratilova, M; Vasickova, P; Couch, FJ; Hallberg, E; Ruddy, KJ; Sharma, P; Kim, SW; Teixeira, MR; Pinto, P; Montagna, M; Matricardi, L; Arason, A; Johannsson, OT; Barkardottir, RB; Jakubowska, A; Lubinski, J; Izquierdo, A; Pujana, MA; Balmaña, J; Diez, O; Ivady, G; Papp, J; Olah, E; Kwong, A; Nevanlinna, H; Aittomäki, K; Perez Segura, P; Caldes, T; Van Maerken, T; Poppe, B; Claes, KB; Isaacs, C; Elan, C; Lasset, C; Stoppa-Lyonnet, D; Barjhoux, L; Belotti, M; Meindl, A; Gehrig, A; Sutter, C; Engel, C; Niederacher, D; Steinemann, D; Hahnen, E; Kast, K; Arnold, N; Varon-Mateeva, R; Wand, D; Godwin, AK; Evans, DG; Frost, D; Perkins, J; Adlard, J; Izatt, L; Platte, R; Eeles, R; Ellis, S; Hamann, U; Garber, J; Fostira, F; Fountzilas, G; Pasini, B; Giannini, G; Rizzolo, P; Russo, A; Cortesi, L; Papi, L; Varesco, L; Palli, D; Zanna, I; Savarese, A; Radice, P; Manoukian, S; Peissel, B; Barile, M; Bonanni, B; Viel, A; Pensotti, V; Tommasi, S; Peterlongo, P; Weitzel, JN; Osorio, A; Benitez, J; McGuffog, L; Healey, S; Gerdes, AM; Ejlertsen, B; Hansen, TV; Steele, L; Ding, YC; Tung, N; Janavicius, R; Goldgar, DE; Buys, SS; Daly, MB; Bane, A; Terry, MB; John, EM; Southey, M; Easton, DF; Chenevix-Trench, G; Antoniou, AC; Ottini, L (2016-01)
    BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using ...
  • A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population. 

    Marzec, J; Mao, X; Li, M; Wang, M; Feng, N; Gou, X; Wang, G; Sun, Z; Xu, J; Xu, H; Zhang, X; Zhao, SC; Ren, G; Yu, Y; Wu, Y; Wu, J; Xue, Y; Zhou, B; Zhang, Y; Xu, X; Li, J; He, W; Benlloch, S; Ross-Adams, H; Chen, L; Li, J; Hong, Y; Kote-Jarai, Z; Cui, X; Hou, J; Guo, J; Xu, L; Yin, C; Zhou, Y; Neal, DE; Oliver, T; Cao, G; Zhang, Z; Easton, DF; Chelala, C; Al Olama, AA; Eeles, RA; Zhang, H; Lu, YJ (2016-04)
    Prostate cancer predisposition has been extensively investigated in European populations, but there have been few studies of other ethnic groups. To investigate prostate cancer susceptibility in the under-investigated ...
  • Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. 

    Spurdle, AB; Couch, FJ; Parsons, MT; McGuffog, L; Barrowdale, D; Bolla, MK; Wang, Q; Healey, S; Schmutzler, R; Wappenschmidt, B; Rhiem, K; Hahnen, E; Engel, C; Meindl, A; Ditsch, N; Arnold, N; Plendl, H; Niederacher, D; Sutter, C; Wang-Gohrke, S; Steinemann, D; Preisler-Adams, S; Kast, K; Varon-Mateeva, R; Ellis, S; Frost, D; Platte, R; Perkins, J; Evans, DG; Izatt, L; Eeles, R; Adlard, J; Davidson, R; Cole, T; Scuvera, G; Manoukian, S; Bonanni, B; Mariette, F; Fortuzzi, S; Viel, A; Pasini, B; Papi, L; Varesco, L; Balleine, R; Nathanson, KL; Domchek, SM; Offitt, K; Jakubowska, A; Lindor, N; Thomassen, M; Jensen, UB; Rantala, J; Borg, Å; Andrulis, IL; Miron, A; Hansen, TV; Caldes, T; Neuhausen, SL; Toland, AE; Nevanlinna, H; Montagna, M; Garber, J; Godwin, AK; Osorio, A; Factor, RE; Terry, MB; Rebbeck, TR; Karlan, BY; Southey, M; Rashid, MU; Tung, N; Pharoah, PD; Blows, FM; Dunning, AM; Provenzano, E; Hall, P; Czene, K; Schmidt, MK; Broeks, A; Cornelissen, S; Verhoef, S; Fasching, PA; Beckmann, MW; Ekici, AB; Slamon, DJ; Bojesen, SE; Nordestgaard, BG; Nielsen, SF; Flyger, H; Chang-Claude, J; Flesch-Janys, D; Rudolph, A; Seibold, P; Aittomäki, K; Muranen, TA; Heikkilä, P; Blomqvist, C; Figueroa, J; Chanock, SJ; Brinton, L; Lissowska, J; Olson, JE; Pankratz, VS; John, EM; Whittemore, AS; West, DW; Hamann, U; Torres, D; Ulmer, HU; Rüdiger, T; Devilee, P; Tollenaar, RA; Seynaeve, C; Van Asperen, CJ; Eccles, DM; Tapper, WJ; Durcan, L; Jones, L; Peto, J; dos-Santos-Silva, I; Fletcher, O; Johnson, N; Dwek, M; Swann, R; Bane, AL; Glendon, G; Mulligan, AM; Giles, GG; Milne, RL; Baglietto, L; McLean, C; Carpenter, J; Clarke, C; Scott, R; Brauch, H; Brüning, T; Ko, YD; Cox, A; Cross, SS; Reed, MW; Lubinski, J; Jaworska-Bieniek, K; Durda, K; Gronwald, J; Dörk, T; Bogdanova, N; Park-Simon, TW; Hillemanns, P; Haiman, CA; Henderson, BE; Schumacher, F; Le Marchand, L; Burwinkel, B; Marme, F; Surovy, H; Yang, R; Anton-Culver, H; Ziogas, A; Hooning, MJ; Collée, JM; Martens, JW; Tilanus-Linthorst, MM; Brenner, H; Dieffenbach, AK; Arndt, V; Stegmaier, C; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Lindblom, A; Margolin, S; Joseph, V; Robson, M; Rau-Murthy, R; González-Neira, A; Arias, JI; Zamora, P; Benítez, J; Mannermaa, A; Kataja, V; Kosma, VM; Hartikainen, JM; Peterlongo, P; Zaffaroni, D; Barile, M; Capra, F; Radice, P; Teo, SH; Easton, DF; Antoniou, AC; Chenevix-Trench, G; Goldgar, DE
    The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility ...
  • LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations. 

    Dadaev, T; Leongamornlert, DA; Saunders, EJ; Eeles, R; Kote-Jarai, Z (2016-03)
    : In this article, we present LocusExplorer, a data visualization and exploration tool for genetic association data. LocusExplorer is written in R using the Shiny library, providing access to powerful R-based functions ...
  • A Cross-Cancer Genetic Association Analysis of the DNA Repair and DNA Damage Signaling Pathways for Lung, Ovary, Prostate, Breast, and Colorectal Cancer. 

    Scarbrough, PM; Weber, RP; Iversen, ES; Brhane, Y; Amos, CI; Kraft, P; Hung, RJ; Sellers, TA; Witte, JS; Pharoah, P; Henderson, BE; Gruber, SB; Hunter, DJ; Garber, JE; Joshi, AD; McDonnell, K; Easton, DF; Eeles, R; Kote-Jarai, Z; Muir, K; Doherty, JA; Schildkraut, JM (2016-01)
    DNA damage is an established mediator of carcinogenesis, although genome-wide association studies (GWAS) have identified few significant loci. This cross-cancer site, pooled analysis was performed to increase the power to ...
  • Maternal breast cancer risk in relation to birthweight and gestation of her offspring. 

    Swerdlow, AJ; Wright, LB; Schoemaker, MJ; Jones, ME (2018-10-05)
    BACKGROUND: Parity and age at first pregnancy are well-established risk factors for breast cancer, but the effects of other characteristics of pregnancies are uncertain and the literature is inconsistent. METHODS: In a ...
  • Leveraging human genetics to guide cancer drug development 

    Kinnersley, B; Sud, A; Coker, EA; Tym, JE; Di Micco, P; Al-Lazikani, B; Houlston, RS
  • Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 

    Ostrom, QT; Kinnersley, B; Armstrong, G; Rice, T; Chen, Y; Wiencke, JK; McCoy, LS; Hansen, HM; Amos, CI; Bernstein, JL; Claus, EB; Eckel-Passow, JE; Il'yasova, D; Johansen, C; Lachance, DH; Lai, RK; Merrell, RT; Olson, SH; Sadetzki, S; Schildkraut, JM; Shete, S; Rubin, JB; Andersson, U; Rajaraman, P; Chanock, SJ; Linet, MS; Wang, Z; Yeager, M; GliomaScan consortium; Houlston, RS; Jenkins, RB; Wrensch, MR; Melin, B; Bondy, ML; Barnholtz-Sloan, JS (2018-08-27)
    Glioblastoma (GBM) is the most common malignant brain tumor in the United States. Incidence of GBM increases with age, and younger age-at-diagnosis is significantly associated with improved prognosis. While the relationship ...
  • Rates of prostate-specific antigen testing in general practice in England and Wales in asymptomatic and symptomatic patients: a cross-sectional study 

    Melia, J; Moss, S; Johns, L (BLACKWELL PUBLISHING LTD, 2004-07)
    Objective To assess the rate of prostate-specific antigen (PSA) testing for prostate cancer in general practice in asymptomatic and symptomatic patients. Subjects and Methods The cross-sectional study took place in England ...
  • Cancer genetics, precision prevention and a call to action. 

    Turnbull, C; Sud, A; Houlston, RS (2018-09)
    More than 15 years have passed since the identification, through linkage, of 'first-wave' susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These genes have strong frequency-penetrance profiles, such ...
  • Do all patients with bilateral testis cancer have a hereditary predisposition? 

    Harland, SJ; Rapley, EA; Nicholson, PW (Wiley/Blackwell (10.1111), 2007-08-09)
    Summary An international study has demonstrated that patients with bilateral testicular cancer are significantly more likely to have brothers with testis cancer than those with unilateral disease. This, together with other ...
  • Effects of a prostate awareness pilot on GP consultations and PSA requests 

    Melia, J; Coulson, P; Moss, S; Coleman, D (OXFORD UNIV PRESS, 2010-02)
    Background. A Department of Health prostate awareness initiative, piloted in Coventry in 2006, promoted reporting of symptoms of benign prostatic hyperplasia, prostatitis and prostate cancer to GPs without causing sudden ...
  • Identification of nine new susceptibility loci for endometrial cancer. 

    O'Mara, TA; Glubb, DM; Amant, F; Annibali, D; Ashton, K; Attia, J; Auer, PL; Beckmann, MW; Black, A; Bolla, MK; Brauch, H; Brenner, H; Brinton, L; Buchanan, DD; Burwinkel, B; Chang-Claude, J; Chanock, SJ; Chen, C; Chen, MM; Cheng, THT; Clarke, CL; Clendenning, M; Cook, LS; Couch, FJ; Cox, A; Crous-Bous, M; Czene, K; Day, F; Dennis, J; Depreeuw, J; Doherty, JA; Dörk, T; Dowdy, SC; Dürst, M; Ekici, AB; Fasching, PA; Fridley, BL; Friedenreich, CM; Fritschi, L; Fung, J; García-Closas, M; Gaudet, MM; Giles, GG; Goode, EL; Gorman, M; Haiman, CA; Hall, P; Hankison, SE; Healey, CS; Hein, A; Hillemanns, P; Hodgson, S; Hoivik, EA; Holliday, EG; Hopper, JL; Hunter, DJ; Jones, A; Krakstad, C; Kristensen, VN; Lambrechts, D; Marchand, LL; Liang, X; Lindblom, A; Lissowska, J; Long, J; Lu, L; Magliocco, AM; Martin, L; McEvoy, M; Meindl, A; Michailidou, K; Milne, RL; Mints, M; Montgomery, GW; Nassir, R; Olsson, H; Orlow, I; Otton, G; Palles, C; Perry, JRB; Peto, J; Pooler, L; Prescott, J; Proietto, T; Rebbeck, TR; Risch, HA; Rogers, PAW; Rübner, M; Runnebaum, I; Sacerdote, C; Sarto, GE; Schumacher, F; Scott, RJ; Setiawan, VW; Shah, M; Sheng, X; Shu, X-O; Southey, MC; Swerdlow, AJ; Tham, E; Trovik, J; Turman, C; Tyrer, JP; Vachon, C; VanDen Berg, D; Vanderstichele, A; Wang, Z; Webb, PM; Wentzensen, N; Werner, HMJ; Winham, SJ; Wolk, A; Xia, L; Xiang, Y-B; Yang, HP; Yu, H; Zheng, W; Pharoah, PDP; Dunning, AM; Kraft, P; De Vivo, I; Tomlinson, I; Easton, DF; Spurdle, AB; Thompson, DJ (2018-08-09)
    Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ...
  • CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. 

    Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; Mahamdallie, S; Cloke, V; Seal, S; Strydom, A; Lunter, G; Rahman, N (2015-01)
    Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision ...
  • Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 

    Ruark, E; Seal, S; McDonald, H; Zhang, F; Elliot, A; Lau, K; Perdeaux, E; Rapley, E; Eeles, R; Peto, J; Kote-Jarai, Z; Muir, K; Nsengimana, J; Shipley, J; Bishop, DT; Stratton, MR; Easton, DF; Huddart, RA; Rahman, N; Turnbull, C (2013-06)
    Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) ...
  • Predisposition alleles for testicular germ cell tumour 

    Rapley, EA; Nathanson, KL (CURRENT BIOLOGY LTD, 2010-06)
    For some time, it has been known that there is a substantial genetic component to testicular germ cell tumour susceptibility, supported by several pieces of evidence, including the significantly increased familial risk and ...
  • Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. 

    Sud, A; Thomsen, H; Orlando, G; Försti, A; Law, PJ; Broderick, P; Cooke, R; Hariri, F; Pastinen, T; Easton, DF; Pharoah, PDP; Dunning, AM; Peto, J; Canzian, F; Eeles, R; Kote-Jarai, Z; Muir, K; Pashayan, N; Campa, D; Hoffmann, P; Nöthen, MM; Jöckel, K-H; von Strandmann, EP; Swerdlow, AJ; Engert, A; Orr, N; Hemminki, K; Houlston, RS (2018-09-07)
    To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of seven genome-wide association studies totalling 5,325 HL cases and 22,423 controls. We identify five new ...

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