Recent submissions

  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants 

    Dadaev, T; Saunders, EJ; Newcombe, PJ; Anokian, E; Leongamornlert, DA; Brook, MN; Cieza-Borrella, C; Mijuskovic, M; Wakerell, S; Olama, AAA; Schumacher, FR; Berndt, SI; Benlloch, S; Ahmed, M; Goh, C; Sheng, X; Zhang, Z; Muir, K; Govindasami, K; Lophatananon, A; Stevens, VL; Gapstur, SM; Carter, BD; Tangen, CM; Goodman, P; Thompson, IM; Batra, J; Chambers, S; Moya, L; Clements, J; Horvath, L; Tilley, W; Risbridger, G; Gronberg, H; Aly, M; Nordström, T; Pharoah, P; Pashayan, N; Schleutker, J; Tammela, TLJ; Sipeky, C; Auvinen, A; Albanes, D; Weinstein, S; Wolk, A; Hakansson, N; West, C; Dunning, AM; Burnet, N; Mucci, L; Giovannucci, E; Andriole, G; Cussenot, O; Cancel-Tassin, G; Koutros, S; Freeman, LEB; Sorensen, KD; Orntoft, TF; Borre, M; Maehle, L; Grindedal, EM; Neal, DE; Donovan, JL; Hamdy, FC; Martin, RM; Travis, RC; Key, TJ; Hamilton, RJ; Fleshner, NE; Finelli, A; Ingles, SA; Stern, MC; Rosenstein, B; Kerns, S; Ostrer, H; Lu, Y-J; Zhang, H-W; Feng, N; Mao, X; Guo, X; Wang, G; Sun, Z; Giles, GG; Southey, MC; MacInnis, RJ; FitzGerald, LM; Kibel, AS; Drake, BF; Vega, A; Gómez-Caamaño, A; Fachal, L; Szulkin, R; Eklund, M; Kogevinas, M; Llorca, J; Castaño-Vinyals, G; Penney, KL; Stampfer, M; Park, JY; Sellers, TA; Lin, H-Y; Stanford, JL; Cybulski, C; Wokolorczyk, D; Lubinski, J; Ostrander, EA; Geybels, MS; Nordestgaard, BG; Nielsen, SF; Weisher, M; Bisbjerg, R; Røder, MA; Iversen, P; Brenner, H; Cuk, K; Holleczek, B; Maier, C; Luedeke, M; Schnoeller, T; Kim, J; Logothetis, CJ; John, EM; Teixeira, MR; Paulo, P; Cardoso, M; Neuhausen, SL; Steele, L; Ding, YC; De Ruyck, K; De Meerleer, G; Ost, P; Razack, A; Lim, J; Teo, S-H; Lin, DW; Newcomb, LF; Lessel, D; Gamulin, M; Kulis, T; Kaneva, R; Usmani, N; Slavov, C; Mitev, V; Parliament, M; Singhal, S; Claessens, F; Joniau, S; Van den Broeck, T; Larkin, S; Townsend, PA; Aukim-Hastie, C; Gago-Dominguez, M; Castelao, JE; Martinez, ME; Roobol, MJ; Jenster, G; van Schaik, RHN; Menegaux, F; Truong, T; Koudou, YA; Xu, J; Khaw, K-T; Cannon-Albright, L; Pandha, H; Michael, A; Kierzek, A; Thibodeau, SN; McDonnell, SK; Schaid, DJ; Lindstrom, S; Turman, C; Ma, J; Hunter, DJ; Riboli, E; Siddiq, A; Canzian, F; Kolonel, LN; Le Marchand, L; Hoover, RN; Machiela, MJ; Kraft, P; Freedman, M; Wiklund, F; Chanock, S; Henderson, BE; Easton, DF; Haiman, CA; Eeles, RA; Conti, DV; Kote-Jarai, Z
  • The psychosocial impact of undergoing prostate cancer screening for men with BRCA1/2 mutations. 

    Bancroft, EK; Saya, S; Page, EC; Myhill, K; Thomas, S; Pope, J; Chamberlain, A; Hart, R; Glover, W; Cook, J; Rosario, DJ; Helfand, BT; Selkirk, CH; Davidson, R; Longmuir, M; Eccles, DM; Gadea, N; Brewer, C; Barwell, J; Salinas, M; Greenhalgh, L; Tischkowitz, M; Henderson, A; Evans, DG; Buys, SS; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles, RA; Aaronson, NK (2018-05-26)
    OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic ...
  • A paradox: urgent BRCA genetic testing. 

    Mitchell, G; Ardern-Jones, A; Kissin Mchir, M; Taylor, R; Eeles, RA (2001-01)
    Diagnostic or predictive testing for germline mutations in cancer predisposition genes is inherently slow as result of both genetic counselling and mutation analysis. The overall time taken for mutation testing is not ...
  • Mortality and cancer incidence in persons with Down's syndrome, their parents and siblings. 

    Hermon, C; Alberman, E; Beral, V; Swerdlow, AJ (2001-03)
    A cohort study of 1425 persons with Down's syndrome (DS), and of their parents (447 mothers, 435 fathers) and siblings (1176), was set up to investigate death rates from various causes and cancer incidence patterns. In ...
  • Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. 

    Swerdlow, AJ; Hermon, C; Jacobs, PA; Alberman, E; Beral, V; Daker, M; Fordyce, A; Youings, S (2001-03)
    Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations ...
  • The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 

    Patel, H; Hart, PE; Warner, TT; Houlston, RS; Patton, MA; Jeffery, S; Crosby, AH (2001-07)
    The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form ...
  • Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. 

    Popat, S; Hearle, N; Hogberg, L; Braegger, CP; O'Donoghue, D; Falth-Magnusson, K; Holmes, GK; Howdle, PD; Jenkins, H; Johnston, S; Kennedy, NP; Kumar, PJ; Logan, RF; Marsh, MN; Mulder, CJ; Torinsson Naluai, A; Sjoberg, K; Stenhammar, L; Walters, JR; Jewell, DP; Houlston, RS (2002-03)
    Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated ...
  • The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS). 

    Leach, MO; Eeles, RA; Turnbull, LW; Dixon, AK; Brown, J; Hoff, RJ; Coulthard, A; Dixon, JM; Easton, DF; Evans, DG; Gilbert, FJ; Hawnaur, J; Hayes, C; Kessar, P; Lakhani, S; Liney, G; Moss, SM; Padhani, AP; Pointon, LJ; Sydenham, M; Walker, LG; Warren, RM; Haites, NE; Morrison, P; Cole, T; Rayter, Z; Donaldson, A; Shere, M; Rankin, J; Goudie, D; Steel, CM; Davidson, R; Chu, C; Ellis, I; Mackay, J; Hodgson, SV; Homfray, T; Douglas, F; Quarrell, OW; Eccles, DM; Gilbert, FG; Crothers, G; Walker, CP; Jones, A; Slack, N; Britton, P; Sheppard, DG; Walsh, J; Whitehouse, G; Teh, W; Rankin, S; Boggis, C; Potterton, J; McLean, L; Gordon, PA; Rubin, C (2002-09)
    The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS) is in progress. The study design, accrual to date, and related research projects are described. Revised accrual rates ...
  • The predicted impact of coding single nucleotide polymorphisms database. 

    Rudd, MF; Williams, RD; Webb, EL; Schmidt, S; Sellick, GS; Houlston, RS (2005-11)
    Nonsynonymous single nucleotide polymorphisms (nsSNP) have the potential to affect the structure or function of expressed proteins and are, therefore, likely to represent modifiers of inherited susceptibility. We have ...
  • Familial gigantism caused by an NSD1 mutation. 

    van Haelst, MM; Hoogeboom, JJ; Baujat, G; Brüggenwirth, HT; Van de Laar, I; Coleman, K; Rahman, N; Niermeijer, MF; Drop, SL; Scambler, PJ (2005-11)
    A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. ...
  • PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. 

    McConville, C; Reid, S; Baskcomb, L; Douglas, J; Rahman, N (2006-06)
    Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk ...
  • The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)? 

    Houlston, R
    The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)? Lobular carcinoma in situ was first described over 60 years ago. Despite the long history, it continues to pose ...
  • Guilt, blame and responsibility: men's understanding of their role in the transmission of BRCA1/2 mutations within their family. 

    Hallowell, N; Arden-Jones, A; Eeles, R; Foster, C; Lucassen, A; Moynihan, C; Watson, M
    Men and women who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. The sons and daughters of mutation ...
  • Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies. 

    MacInnis, RJ; Antoniou, AC; Eeles, RA; Severi, G; Guy, M; McGuffog, L; Hall, AL; O'Brien, LT; Wilkinson, RA; Dearnaley, DP; Ardern-Jones, AT; Horwich, A; Khoo, VS; Parker, CC; Huddart, RA; McCredie, MR; Smith, C; Southey, MC; Staples, MP; English, DR; Hopper, JL; Giles, GG; Easton, DF (2010-01)
    Familial aggregation of prostate cancer is likely to be due to multiple susceptibility loci, perhaps acting in conjunction with shared lifestyle risk factors. Models that assume a single mode of inheritance may be unrealistic. ...
  • The potential value of microseminoprotein-beta as a prostate cancer biomarker and therapeutic target. 

    Whitaker, HC; Warren, AY; Eeles, R; Kote-Jarai, Z; Neal, DE (2010-02)
    BACKGROUND: Recent genome-wide association studies have shown an association of a SNP two base pairs upstream of the 5' UTR of the microseminoprotein-beta (MSMB) gene with an increased risk of developing the prostate cancer, ...
  • Dietary fat and early-onset prostate cancer risk. 

    Lophatananon, A; Archer, J; Easton, D; Pocock, R; Dearnaley, D; Guy, M; Kote-Jarai, Z; O'Brien, L; Wilkinson, RA; Hall, AL; Sawyer, E; Page, E; Liu, JF; Barratt, S; Rahman, AA; Eeles, R; Muir, K (2010-05)
    The UK incidence of prostate cancer has been increasing in men aged < 60 years. Migrant studies and global and secular variation in incidence suggest that modifiable factors, including a high-fat diet, may contribute to ...
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. 

    Christensen, GB; Baffoe-Bonnie, AB; George, A; Powell, I; Bailey-Wilson, JE; Carpten, JD; Giles, GG; Hopper, JL; Severi, G; English, DR; Foulkes, WD; Maehle, L; Moller, P; Eeles, R; Easton, D; Badzioch, MD; Whittemore, AS; Oakley-Girvan, I; Hsieh, CL; Dimitrov, L; Xu, J; Stanford, JL; Johanneson, B; Deutsch, K; McIntosh, L; Ostrander, EA; Wiley, KE; Isaacs, SD; Walsh, PC; Isaacs, WB; Thibodeau, SN; McDonnell, SK; Hebbring, S; Schaid, DJ; Lange, EM; Cooney, KA; Tammela, TL; Schleutker, J; Paiss, T; Maier, C; Grönberg, H; Wiklund, F; Emanuelsson, M; Farnham, JM; Cannon-Albright, LA; Camp, NJ
    Prostate cancer (PC) is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD ...
  • Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer. 

    Middeldorp, A; Jagmohan-Changur, SC; van der Klift, HM; van Puijenbroek, M; Houwing-Duistermaat, JJ; Webb, E; Houlston, R; Tops, C; Vasen, HF; Devilee, P; Morreau, H; van Wezel, T; Wijnen, J (2010-06)
    Approximately 40% of colorectal cancer (CRC) families with a diagnosis of hereditary nonpolyposis CRC on the basis of clinical criteria are not a consequence of mismatch repair (MMR) deficiency. Such families provide ...
  • Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk. 

    Crowther-Swanepoel, D; Mansouri, M; Enjuanes, A; Vega, A; Smedby, KE; Ruiz-Ponte, C; Jurlander, J; Juliusson, G; Montserrat, E; Catovsky, D; Campo, E; Carracedo, A; Rosenquist, R; Houlston, RS (2010-08)
    A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and ...
  • The NSD1 and EZH2 overgrowth genes, similarities and differences. 

    Tatton-Brown, K; Rahman, N
    NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue ...

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