Recent submissions

  • Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. 

    Camacho, N; Van Loo, P; Edwards, S; Kay, JD; Matthews, L; Haase, K; Clark, J; Dennis, N; Thomas, S; Kremeyer, B; Zamora, J; Butler, AP; Gundem, G; Merson, S; Luxton, H; Hawkins, S; Ghori, M; Marsden, L; Lambert, A; Karaszi, K; Pelvender, G; Massie, CE; Kote-Jarai, Z; Raine, K; Jones, D; Howat, WJ; Hazell, S; Livni, N; Fisher, C; Ogden, C; Kumar, P; Thompson, A; Nicol, D; Mayer, E; Dudderidge, T; Yu, Y; Zhang, H; Shah, NC; Gnanapragasam, VJ; CRUK-ICGC Prostate Group; Isaacs, W; Visakorpi, T; Hamdy, F; Berney, D; Verrill, C; Warren, AY; Wedge, DC; Lynch, AG; Foster, CS; Lu, YJ; Bova, GS; Whitaker, HC; McDermott, U; Neal, DE; Eeles, R; Cooper, CS; Brewer, DS (2017-09)
    A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively ...
  • Ambiguity in a masculine world: Being a BRCA1/2 mutation carrier and a man with prostate cancer. 

    Moynihan, C; Bancroft, EK; Mitra, A; Ardern-Jones, A; Castro, E; Page, EC; Eeles, RA (2017-11)
    OBJECTIVE: Increased risk of prostate cancer (PCa) is observed in men with BRCA1/BRCA2 mutations. Sex and gender are key determinants of health and disease although unequal care exists between the sexes. Stereotypical male ...
  • Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations. 

    Shu, CA; Pike, MC; Jotwani, AR; Friebel, TM; Soslow, RA; Levine, DA; Nathanson, KL; Konner, JA; Arnold, AG; Bogomolniy, F; Dao, F; Olvera, N; Bancroft, EK; Goldfrank, DJ; Stadler, ZK; Robson, ME; Brown, CL; Leitao, MM; Abu-Rustum, NR; Aghajanian, CA; Blum, JL; Neuhausen, SL; Garber, JE; Daly, MB; Isaacs, C; Eeles, RA; Ganz, PA; Barakat, RR; Offit, K; Domchek, SM; Rebbeck, TR; Kauff, ND (2016-06-30)
    The link between BRCA mutations and uterine cancer is unclear. Therefore, although risk-reducing salpingo-oophorectomy (RRSO) is standard treatment among women with BRCA mutations (BRCA+ women), the role of concomitant ...
  • Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases. 

    FitzGerald, LM; Zhao, S; Leonardson, A; Geybels, MS; Kolb, S; Lin, DW; Wright, JL; Eeles, R; Kote-Jarai, Z; Govindasami, K; Giles, GG; Southey, MC; Schleutker, J; Tammela, TL; Sipeky, C; Penney, KL; Stampfer, MJ; Gronberg, H; Wiklund, F; Stattin, P; Hugosson, J; Karyadi, DM; Ostrander, EA; Feng, Z; Stanford, JL (2018-01-03)
    BACKGROUND: Prostate cancer (PCa) is a leading cause of mortality and genetic factors can influence tumour aggressiveness. Several germline variants have been associated with PCa-specific mortality (PCSM), but further ...
  • Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. 

    Mikropoulos, C; Selkirk, CGH; Saya, S; Bancroft, E; Vertosick, E; Dadaev, T; Brendler, C; Page, E; Dias, A; Evans, DG; Rothwell, J; Maehle, L; Axcrona, K; Richardson, K; Eccles, D; Jensen, T; Osther, PJ; van Asperen, CJ; Vasen, H; Kiemeney, LA; Ringelberg, J; Cybulski, C; Wokolorczyk, D; Hart, R; Glover, W; Lam, J; Taylor, L; Salinas, M; Feliubadaló, L; Oldenburg, R; Cremers, R; Verhaegh, G; van Zelst-Stams, WA; Oosterwijk, JC; Cook, J; Rosario, DJ; Buys, SS; Conner, T; Domchek, S; Powers, J; Ausems, MG; Teixeira, MR; Maia, S; Izatt, L; Schmutzler, R; Rhiem, K; Foulkes, WD; Boshari, T; Davidson, R; Ruijs, M; Helderman-van den Enden, AT; Andrews, L; Walker, L; Snape, K; Henderson, A; Jobson, I; Lindeman, GJ; Liljegren, A; Harris, M; Adank, MA; Kirk, J; Taylor, A; Susman, R; Chen-Shtoyerman, R; Pachter, N; Spigelman, A; Side, L; Zgajnar, J; Mora, J; Brewer, C; Gadea, N; Brady, AF; Gallagher, D; van Os, T; Donaldson, A; Stefansdottir, V; Barwell, J; James, PA; Murphy, D; Friedman, E; Nicolai, N; Greenhalgh, L; Obeid, E; Murthy, V; Copakova, L; McGrath, J; Teo, S-H; Strom, S; Kast, K; Leongamornlert, DA; Chamberlain, A; Pope, J; Newlin, AC; Aaronson, N; Ardern-Jones, A; Bangma, C; Castro, E; Dearnaley, D; Eyfjord, J; Falconer, A; Foster, CS; Gronberg, H; Hamdy, FC; Johannsson, O; Khoo, V; Lubinski, J; Grindedal, EM; McKinley, J; Shackleton, K; Mitra, AV; Moynihan, C; Rennert, G; Suri, M; Tricker, K; IMPACT study collaborators; Moss, S; Kote-Jarai, Z; Vickers, A; Lilja, H; Helfand, BT; Eeles, RA (2018-01-04)
    BACKGROUND: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition ...
  • Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk. 

    Levy, M; Hall, D; Sud, A; Law, P; Litchfield, K; Dudakia, D; Haugen, TB; Karlsson, R; Reid, A; Huddart, RA; Grotmol, T; Wiklund, F; Houlston, RS; Turnbull, C (2017-09)
    Observational studies have suggested anthropometric traits, particularly increased height are associated with an elevated risk of testicular cancer (testicular germ cell tumour). However, there is an inconsistency between ...
  • T-cell Prolymphocytic Leukemia. 

    Sud, A; Dearden, C (2017-04)
    T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive T-cell malignancy. T-PLL can be distinguished from other lymphoid diseases by the evaluation and integration of clinical features, morphology, immunophenotyping, ...
  • Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. 

    Sud, A; Thomsen, H; Law, PJ; Försti, A; Filho, MIDS; Holroyd, A; Broderick, P; Orlando, G; Lenive, O; Wright, L; Cooke, R; Easton, D; Pharoah, P; Dunning, A; Peto, J; Canzian, F; Eeles, R; Kote-Jarai, Z; Muir, K; Pashayan, N; PRACTICAL consortium; Hoffmann, P; Nöthen, MM; Jöckel, K-H; Strandmann, EPV; Lightfoot, T; Kane, E; Roman, E; Lake, A; Montgomery, D; Jarrett, RF; Swerdlow, AJ; Engert, A; Orr, N; Hemminki, K; Houlston, RS (2017-12-01)
    Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide ...
  • Smoking and risk of breast cancer in the Generations Study cohort. 

    Jones, ME; Schoemaker, MJ; Wright, LB; Ashworth, A; Swerdlow, AJ (2017-11-22)
    BACKGROUND: Plausible biological reasons exist regarding why smoking could affect breast cancer risk, but epidemiological evidence is inconsistent. METHODS: We used serial questionnaire information from the Generations ...
  • Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk. 

    MacInnis, RJ; Schmidt, DF; Makalic, E; Severi, G; FitzGerald, LM; Reumann, M; Kapuscinski, MK; Kowalczyk, A; Zhou, Z; Goudey, B; Qian, G; Bui, QM; Park, DJ; Freeman, A; Southey, MC; Al Olama, AA; Kote-Jarai, Z; Eeles, RA; Hopper, JL; Giles, GG; UK Genetic Prostate Cancer Study Collaborators (2016-12)
    BACKGROUND: We have developed a genome-wide association study analysis method called DEPTH (DEPendency of association on the number of Top Hits) to identify genomic regions potentially associated with disease by considering ...
  • seXY: a tool for sex inference from genotype arrays. 

    Qian, DC; Busam, JA; Xiao, X; O'Mara, TA; Eeles, RA; Schumacher, FR; Phelan, CM; Amos, CI (2017-02-15)
    Motivation: Checking concordance between reported sex and genotype-inferred sex is a crucial quality control measure in genome-wide association studies (GWAS). However, limited insights exist regarding the true accuracy ...
  • Neutral tumor evolution in myeloma is associated with poor prognosis. 

    Johnson, DC; Lenive, O; Mitchell, J; Jackson, G; Owen, R; Drayson, M; Cook, G; Jones, JR; Pawlyn, C; Davies, FE; Walker, BA; Wardell, C; Gregory, WM; Cairns, D; Morgan, GJ; Houlston, RS; Kaiser, MF (2017-10-05)
    Recent studies suggest that the evolutionary history of a cancer is important in forecasting clinical outlook. To gain insight into the clonal dynamics of multiple myeloma (MM) and its possible influence on patient outcomes, ...
  • Genome-wide association studies of cancer: current insights and future perspectives. 

    Sud, A; Kinnersley, B; Houlston, RS (2017-11)
    Genome-wide association studies (GWAS) provide an agnostic approach for investigating the genetic basis of complex diseases. In oncology, GWAS of nearly all common malignancies have been performed, and over 450 genetic ...
  • Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism. 

    Li, N; Johnson, DC; Weinhold, N; Kimber, S; Dobbins, SE; Mitchell, JS; Kinnersley, B; Sud, A; Law, PJ; Orlando, G; Scales, M; Wardell, CP; Försti, A; Hoang, PH; Went, M; Holroyd, A; Hariri, F; Pastinen, T; Meissner, T; Goldschmidt, H; Hemminki, K; Morgan, GJ; Kaiser, M; Houlston, RS (2017-09-12)
    Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by ...
  • Genetic predisposition to prostate cancer. 

    Benafif, S; Eeles, R (2016-12)
    INTRODUCTION: Prostate cancer (PrCa) is the commonest non-cutaneous cancer in men in the UK. Epidemiological evidence as well as twin studies points towards a genetic component contributing to aetiology. SOURCES OF DATA: ...
  • Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies. 

    Larson, NB; McDonnell, S; Albright, LC; Teerlink, C; Stanford, J; Ostrander, EA; Isaacs, WB; Xu, J; Cooney, KA; Lange, E; Schleutker, J; Carpten, JD; Powell, I; Bailey-Wilson, J; Cussenot, O; Cancel-Tassin, G; Giles, G; MacInnis, R; Maier, C; Whittemore, AS; Hsieh, CL; Wiklund, F; Catolona, WJ; Foulkes, W; Mandal, D; Eeles, R; Kote-Jarai, Z; Ackerman, MJ; Olson, TM; Klein, CJ; Thibodeau, SN; Schaid, DJ (2016-09)
    Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis ...
  • The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data. 

    Mahamdallie, S; Ruark, E; Yost, S; Ramsay, E; Uddin, I; Wylie, H; Elliott, A; Strydom, A; Renwick, A; Seal, S; Rahman, N (2017)
    Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ...
  • Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report. 

    Shah, V; Boyd, KD; Houlston, RS; Kaiser, MF (2017-11-06)
    BACKGROUND: Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally ...
  • Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study 

    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, J-Y; 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; Knight, JA; Kosma, V-M; 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, C-Y; Shu, X-O; Southey, MC; Swerdlow, A; Teo, S-H; Tollenaar, RAEM; Truong, T; Tseng, C-C; van den Broek, AJ; van Deurzen, CHM; Winqvist, R; Wu, AH; Yip, CH; Yu, J-C; Zheng, W; Milne, RL; Pharoah, PDP; Easton, DF; Schmidt, MK; Garcia-Closas, M; Chang-Claude, J; Lambrechts, D; Neven, P (2017-12)

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