Recent submissions

  • Genome-wide association study identifies risk loci for progressive chronic lymphocytic leukemia. 

    Lin, W-Y; Fordham, SE; Sunter, N; Elstob, C; Rahman, T; Willmore, E; Shepherd, C; Strathdee, G; Mainou-Fowler, T; Piddock, R; Mearns, H; Barrow, T; Houlston, RS; Marr, H; Wallis, J; Summerfield, G; Marshall, S; Pettitt, A; Pepper, C; Fegan, C; Forconi, F; Dyer, MJS; Jayne, S; Sellors, A; Schuh, A; Robbe, P; Oscier, D; Bailey, J; Rais, S; Bentley, A; Cawkwell, L; Evans, P; Hillmen, P; Pratt, G; Allsup, DJ; Allan, JM (2021-01-28)
    Prognostication in patients with chronic lymphocytic leukemia (CLL) is challenging due to heterogeneity in clinical course. We hypothesize that constitutional genetic variation affects disease progression and could aid ...
  • Genetic predisposition to prostate cancer: an update. 

    Ni Raghallaigh, H; Eeles, R (2021-01-24)
    Improvements in DNA sequencing technology and discoveries made by large scale genome-wide association studies have led to enormous insight into the role of genetic variation in prostate cancer risk. High-risk prostate ...
  • CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. 

    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, V-M; Koutros, S; Kraft, P; Kristensen, VN; Kurian, AW; Lambrechts, D; Le Marchand, L; Linet, M; Lubiński, 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, T-W; Peterlongo, P; Plaseska-Karanfilska, D; Pylkäs, K; Rennert, G; Rennert, HS; Ruddy, KJ; Saloustros, E; Sandler, DP; Sawyer, EJ; Schmutzler, RK; Scott, C; Shu, X-O; 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 (2021-01-26)
    BACKGROUND: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary ...
  • Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers. 

    Glubb, DM; Thompson, DJ; Aben, KK; Alsulimani, A; Amant, F; Annibali, D; Attia, J; Barricarte, A; Beckmann, MW; Berchuck, A; Bermisheva, M; Bernardini, MQ; Bischof, K; Bjørge, L; Bodelon, C; Brand, AH; Brenton, JD; Brinton, LA; Bruinsma, F; Buchanan, DD; Burghaus, S; Bützow, R; Cai, H; Carney, ME; Chanock, SJ; Chen, C; Chen, X; Chen, Z; Cook, LS; Cunningham, JM; De Vivo, I; DeFazio, A; Doherty, JA; Dork, T; du Bois, A; Dunning, AM; Durst, M; Edwards, T; Edwards, RP; Ekici, AB; Ewing, A; Fasching, PA; Ferguson, S; Flanagan, JM; Fostira, F; Fountzilas, G; Friedenreich, CM; Gao, B; Gaudet, MM; Gawełko, J; Gentry-Maharaj, A; Giles, GG; Glasspool, R; Goodman, MT; Gronwald, J; Harris, HR; Harter, P; Hein, A; Heitz, F; Hildebrandt, MAT; Hillemanns, P; Høgdall, E; Høgdall, CK; Holliday, EG; Huntsman, DG; Huzarski, T; Jakubowska, A; Jensen, A; Jones, ME; Karlan, BY; Karnezis, A; Kelley, JL; Khusnutdinova, E; Killeen, JL; Kjaer, SK; Klapdor, R; Köbel, M; Konopka, B; Konstantopoulou, I; Kopperud, RK; Koti, M; Kraft, P; Kupryjanczyk, J; Lambrechts, D; Larson, MC; Le Marchand, L; Lele, S; Lester, J; Li, AJ; Liang, D; Liebrich, C; Lipworth, L; Lissowska, J; Lu, L; Lu, KH; Macciotta, A; Mattiello, A; May, T; McAlpine, JN; McGuire, V; McNeish, IA; Menon, U; Modugno, F; Moysich, KB; Nevanlinna, H; Odunsi, K; Olsson, H; Orsulic, S; Osorio, A; Palli, D; Park-Simon, T-W; Pearce, CL; Pejovic, T; Permuth, JB; Podgorska, A; Ramus, SJ; Rebbeck, TR; Riggan, MJ; Risch, HA; Rothstein, JH; Runnebaum, IB; Scott, RJ; Sellers, TA; Senz, J; Setiawan, VW; Siddiqui, N; Sieh, W; Spiewankiewicz, B; Sutphen, R; Swerdlow, AJ; Szafron, LM; Teo, SH; Thompson, PJ; Thomsen, LCV; Titus, L; Tone, A; Tumino, R; Turman, C; Vanderstichele, A; Velez Edwards, D; Vergote, I; Vierkant, RA; Wang, Z; Wang-Gohrke, S; Webb, PM; White, E; Whittemore, AS; Winham, SJ; Wu, X; Wu, AH; Yannoukakos, D; Spurdle, AB; O'Mara, TA (2020-11-03)
    BACKGROUND:Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and ...
  • Copy number evolution and its relationship with patient outcome-an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial. 

    Croft, J; Ellis, S; Sherborne, AL; Sharp, K; Price, A; Jenner, MW; Drayson, MT; Owen, RG; Chown, S; Lindsay, J; Karunanithi, K; Hunter, H; Gregory, WM; Davies, FE; Morgan, GJ; Cook, G; Atanesyan, L; Savola, S; Cairns, DA; Jackson, G; Houlston, RS; Kaiser, MF (2020-12)
    Structural chromosomal changes including copy number aberrations (CNAs) are a major feature of multiple myeloma (MM), however their evolution in context of modern biological therapy is not well characterized. To investigate ...
  • 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. 

    Takata, R; Takahashi, A; Fujita, M; Momozawa, Y; Saunders, EJ; Yamada, H; Maejima, K; Nakano, K; Nishida, Y; Hishida, A; Matsuo, K; Wakai, K; Yamaji, T; Sawada, N; Iwasaki, M; Tsugane, S; Sasaki, M; Shimizu, A; Tanno, K; Minegishi, N; Suzuki, K; Matsuda, K; Kubo, M; Inazawa, J; Egawa, S; Haiman, CA; Ogawa, O; Obara, W; Kamatani, Y; Akamatsu, S; Nakagawa, H (2019-09-27)
    Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in European populations. We here performed a GWAS and replication study ...
  • Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. 

    Karlsson, Q; Brook, MN; Dadaev, T; Wakerell, S; Saunders, EJ; Muir, K; Neal, DE; Giles, GG; MacInnis, RJ; Thibodeau, SN; McDonnell, SK; Cannon-Albright, L; Teixeira, MR; Paulo, P; Cardoso, M; Huff, C; Li, D; Yao, Y; Scheet, P; Permuth, JB; Stanford, JL; Dai, JY; Ostrander, EA; Cussenot, O; Cancel-Tassin, G; Hoegel, J; Herkommer, K; Schleutker, J; Tammela, TLJ; Rathinakannan, V; Sipeky, C; Wiklund, F; Grönberg, H; Aly, M; Isaacs, WB; Dickinson, JL; FitzGerald, LM; Chua, MLK; Nguyen-Dumont, T; PRACTICAL Consortium; Schaid, DJ; Southey, MC; Eeles, RA; Kote-Jarai, Z (2021-01-09)
    Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. To precisely estimate the contribution of germline ...
  • The <i>CHEK2</i> Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor. 

    Brandão, A; Paulo, P; Maia, S; Pinheiro, M; Peixoto, A; Cardoso, M; Silva, MP; Santos, C; Eeles, RA; Kote-Jarai, Z; Muir, K; Ukgpcs Collaborators; Schleutker, J; Wang, Y; Pashayan, N; Batra, J; Apcb BioResource; Grönberg, H; Neal, DE; Nordestgaard, BG; Tangen, CM; Southey, MC; Wolk, A; Albanes, D; Haiman, CA; Travis, RC; Stanford, JL; Mucci, LA; West, CML; Nielsen, SF; Kibel, AS; Cussenot, O; Berndt, SI; Koutros, S; Sørensen, KD; Cybulski, C; Grindedal, EM; Park, JY; Ingles, SA; Maier, C; Hamilton, RJ; Rosenstein, BS; Vega, A; The Impact Study Steering Committee And Collaborators; Kogevinas, M; Wiklund, F; Penney, KL; Brenner, H; John, EM; Kaneva, R; Logothetis, CJ; Neuhausen, SL; Ruyck, KD; Razack, A; Newcomb, LF; Canary Pass Investigators; Lessel, D; Usmani, N; Claessens, F; Gago-Dominguez, M; Townsend, PA; Roobol, MJ; The Profile Study Steering Committee; The Practical Consortium; Teixeira, MR (2020-11-04)
    The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence ...
  • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. 

    Schaid, DJ; McDonnell, SK; FitzGerald, LM; DeRycke, L; Fogarty, Z; Giles, GG; MacInnis, RJ; Southey, MC; Nguyen-Dumont, T; Cancel-Tassin, G; Cussenot, O; Whittemore, AS; Sieh, W; Ioannidis, NM; Hsieh, C-L; Stanford, JL; Schleutker, J; Cropp, CD; Carpten, J; Hoegel, J; Eeles, R; Kote-Jarai, Z; Ackerman, MJ; Klein, CJ; Mandal, D; Cooney, KA; Bailey-Wilson, JE; Helfand, B; Catalona, WJ; Wiklund, F; Riska, S; Bahetti, S; Larson, MC; Cannon Albright, L; Teerlink, C; Xu, J; Isaacs, W; Ostrander, EA; Thibodeau, SN (2020-08-13)
    BACKGROUND:Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. OBJECTIVE:To detect new genetic variants associated with PCa, ...
  • FRMD6 has tumor suppressor functions in prostate cancer. 

    Haldrup, J; Strand, SH; Cieza-Borrella, C; Jakobsson, ME; Riedel, M; Norgaard, M; Hedensted, S; Dagnaes-Hansen, F; Ulhoi, BP; Eeles, R; Borre, M; Olsen, JV; Olsen, JV; Thomsen, M; Kote-Jarai, Z; Sorensen, KD (2020-11-28)
    Available tools for prostate cancer (PC) prognosis are suboptimal but may be improved by better knowledge about genes driving tumor aggressiveness. Here, we identified FRMD6 (FERM domain-containing protein 6) as an aberrantly ...
  • Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies. 

    Tamm, R; Mägi, R; Tremmel, R; Winter, S; Mihailov, E; Smid, A; Möricke, A; Klein, K; Schrappe, M; Stanulla, M; Houlston, R; Weinshilboum, R; Mlinarič Raščan, I; Metspalu, A; Milani, L; Schwab, M; Schaeffeler, E (2017-05)
    Thiopurine-related hematotoxicity in pediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S-methyltransferase (TPMT) activity. While ...
  • Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus. 

    Yin, J; Liu, H; Liu, Z; Owzar, K; Han, Y; Su, L; Wei, Y; Hung, RJ; Brhane, Y; McLaughlin, J; Brennan, P; Bickeboeller, H; Rosenberger, A; Houlston, RS; Caporaso, N; Landi, MT; Heinrich, J; Risch, A; Christiani, DC; Amos, CI; Wei, Q (2017-06)
    The fatty acids (FAs) metabolism is suggested to play a pivotal role in the development of lung cancer, and we explored that by conducting a pathway-based analysis. We performed a meta-analysis of published datasets of six ...
  • Low expression of hexokinase-2 is associated with false-negative FDG-positron emission tomography in multiple myeloma. 

    Rasche, L; Angtuaco, E; McDonald, JE; Buros, A; Stein, C; Pawlyn, C; Thanendrarajan, S; Schinke, C; Samant, R; Yaccoby, S; Walker, BA; Epstein, J; Zangari, M; van Rhee, F; Meissner, T; Goldschmidt, H; Hemminki, K; Houlston, R; Barlogie, B; Davies, FE; Morgan, GJ; Weinhold, N (2017-07)
    <sup>18</sup>F-Fluorodeoxyglucose (FDG)-positron emission tomography (PET) and diffusion-weighted magnetic resonance imaging with background signal suppression (DWIBS) are 2 powerful functional imaging modalities in the ...
  • Subclonal <i>TP53</i> copy number is associated with prognosis in multiple myeloma. 

    Shah, V; Johnson, DC; Sherborne, AL; Ellis, S; Aldridge, FM; Howard-Reeves, J; Begum, F; Price, A; Kendall, J; Chiecchio, L; Savola, S; Jenner, MW; Drayson, MT; Owen, RG; Gregory, WM; Morgan, GJ; Davies, FE; Houlston, RS; Cook, G; Cairns, DA; Jackson, G; Kaiser, MF; National Cancer Research Institute Haematology Clinical Studies Group (2018-12)
    Multiple myeloma (MM) is a genetically heterogeneous cancer of bone marrow plasma cells with variable outcome. To assess the prognostic relevance of clonal heterogeneity of <i>TP53</i> copy number, we profiled tumors from ...
  • An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics. 

    Hoang, PH; Cornish, AJ; Sherborne, AL; Chubb, D; Kimber, S; Jackson, G; Morgan, GJ; Cook, G; Kinnersley, B; Kaiser, M; Houlston, RS (2020-10-14)
    Most patients with multiple myeloma (MM) die from progressive disease after relapse. To advance our understanding of MM evolution mechanisms, we performed whole-genome sequencing of 80 IGH-translocated tumour-normal newly ...
  • Sex-specific gene and pathway modeling of inherited glioma risk. 

    Ostrom, QT; Coleman, W; Huang, W; Rubin, JB; Lathia, JD; Berens, ME; Speyer, G; Liao, P; Wrensch, MR; Eckel-Passow, JE; Armstrong, G; Rice, T; Wiencke, JK; McCoy, LS; Hansen, HM; Amos, CI; Bernstein, JL; Claus, EB; Houlston, RS; Il'yasova, D; Jenkins, RB; Johansen, C; Lachance, DH; Lai, RK; Merrell, RT; Olson, SH; Sadetzki, S; Schildkraut, JM; Shete, S; Andersson, U; Rajaraman, P; Chanock, SJ; Linet, MS; Wang, Z; Yeager, M; GliomaScan consortium; Melin, B; Bondy, ML; Barnholtz-Sloan, JS (2019-01)
    <h4>Background</h4>To date, genome-wide association studies (GWAS) have identified 25 risk variants for glioma, explaining 30% of heritable risk. Most histologies occur with significantly higher incidence in males, and ...
  • Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics. 

    Ostrom, QT; Egan, KM; Nabors, LB; Gerke, T; Thompson, RC; Olson, JJ; LaRocca, R; Chowdhary, S; Eckel-Passow, JE; Armstrong, G; Wiencke, JK; Bernstein, JL; Claus, EB; Il'yasova, D; Johansen, C; Lachance, DH; Lai, RK; Merrell, RT; Olson, SH; Sadetzki, S; Schildkraut, JM; Shete, S; Houlston, RS; Jenkins, RB; Wrensch, MR; Melin, B; Amos, CI; Huse, JT; Barnholtz-Sloan, JS; Bondy, ML (2020-02)
    Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have ...
  • Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma. 

    Thomsen, H; Chattopadhyay, S; Weinhold, N; Vodicka, P; Vodickova, L; Hoffmann, P; Nöthen, MM; Jöckel, K-H; Langer, C; Hajek, R; Hallmans, G; Pettersson-Kymmer, U; Ohlsson, C; Späth, F; Houlston, R; Goldschmidt, H; Hemminki, K; Försti, A (2019-07)
  • Glioma-related seizures in relation to histopathological subtypes: a report from the glioma international case-control study. 

    Berntsson, SG; Merrell, RT; Amirian, ES; Armstrong, GN; Lachance, D; Smits, A; Zhou, R; Jacobs, DI; Wrensch, MR; Olson, SH; Il'yasova, D; Claus, EB; Barnholtz-Sloan, JS; Schildkraut, J; Sadetzki, S; Johansen, C; Houlston, RS; Jenkins, RB; Bernstein, JL; Lai, R; Shete, S; Amos, CI; Bondy, ML; Melin, BS (2018-06)
    BACKGROUND:The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient ...
  • Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer. 

    Darst, BF; Dadaev, T; Saunders, E; Sheng, X; Wan, P; Pooler, L; Xia, LY; Chanock, S; Berndt, SI; Gapstur, SM; Stevens, V; Albanes, D; Weinstein, SJ; Gnanapragasam, V; Giles, GG; Nguyen-Dumont, T; Milne, RL; Pomerantz, M; Schmidt, JA; Mucci, L; Catalona, WJ; Hetrick, KN; Doheny, KF; MacInnis, RJ; Southey, MC; Eeles, RA; Wiklund, F; Kote-Jarai, Z; Conti, DV; Haiman, CA (2020-08-27)
    <h4>Background</h4>There is an urgent need to identify factors specifically associated with aggressive prostate cancer (PCa) risk. We investigated whether rare pathogenic, likely pathogenic, or deleterious (P/LP/D) germline ...

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