Recent submissions

  • Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial? 

    McBride, KA; Ballinger, ML; Schlub, TE; Young, M-A; Tattersall, MHN; Kirk, J; Eeles, R; Killick, E; Walker, LG; Shanley, S; Thomas, DM; Mitchell, G (2017-07)
    Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers ...
  • Prostate Cancer Germline Variations and Implications for Screening and Treatment. 

    Dias, A; Kote-Jarai, Z; Mikropoulos, C; Eeles, R (2018-09-04)
    Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves ...
  • Accountability in the NHS: the impact on cancer care. 

    Macklin-Doherty, A (2018)
    Accountability of service delivery is becoming increasingly complex and never has this been more apparent than in the field of Oncology. Cancer care has an unrivalled level of complexity not only in the heterogeneity of ...
  • Breast cancer risk prediction in women aged 35-50 years: impact of including sex hormone concentrations in the Gail model. 

    Clendenen, TV; Ge, W; Koenig, KL; Afanasyeva, Y; Agnoli, C; Brinton, LA; Darvishian, F; Dorgan, JF; Eliassen, AH; Falk, RT; Hallmans, G; Hankinson, SE; Hoffman-Bolton, J; Key, TJ; Krogh, V; Nichols, HB; Sandler, DP; Schoemaker, MJ; Sluss, PM; Sund, M; Swerdlow, AJ; Visvanathan, K; Zeleniuch-Jacquotte, A; Liu, M (2019-03-19)
    BACKGROUND: Models that accurately predict risk of breast cancer are needed to help younger women make decisions about when to begin screening. Premenopausal concentrations of circulating anti-Müllerian hormone (AMH), a ...
  • Elevated platelet count appears to be causally associated with increased risk of lung cancer: A Mendelian randomization analysis. 

    Zhu, Y; Wei, Y; Zhang, R; Dong, X; Shen, S; Zhao, Y; Bai, J; Albanes, D; Caporaso, NE; Landi, MT; Zhu, B; Chanock, SJ; Gu, F; Lam, S; Tsao, M-S; Shepherd, FA; Tardon, A; Fernández-Somoano, A; Fernandez-Tardon, G; Chen, C; Barnett, MJ; Doherty, J; Bojesen, SE; Johansson, M; Brennan, P; McKay, JD; Carreras-Torres, R; Muley, T; Risch, A; Wichmann, H-E; Bickeboeller, H; Rosenberger, A; Rennert, G; Saliba, W; Arnold, SM; Field, JK; Davies, MPA; Marcus, MW; Wu, X; Ye, Y; Le Marchand, L; Wilkens, LR; Melander, O; Manjer, J; Brunnström, H; Hung, RJ; Liu, G; Brhane, Y; Kachuri, L; Andrew, AS; Duell, EJ; Kiemeney, LA; van der Heijden, EHFM; Haugen, A; Zienolddiny, S; Skaug, V; Grankvist, K; Johansson, M; Woll, PJ; Cox, A; Taylor, F; Teare, DM; Lazarus, P; Schabath, MB; Aldrich, MC; Houlston, RS; McLaughlin, J; Stevens, VL; Shen, H; Hu, Z; Dai, J; Amos, CI; Han, Y; Zhu, D; Goodman, GE; Chen, F; Christiani, DC (2019-01-30)
    BACKGROUND: Platelets are a critical element in coagulation and inflammation, and activated platelets are linked to cancer risk through diverse mechanisms. However, a causal relationship between platelets and risk of lung ...
  • Aspirin, NSAIDs, and Glioma Risk: Original Data from the Glioma International Case-Control Study and a Meta-analysis. 

    Amirian, ES; Ostrom, QT; Armstrong, GN; Lai, RK; Gu, X; Jacobs, DI; Jalali, A; Claus, EB; Barnholtz-Sloan, JS; Il'yasova, D; Schildkraut, JM; Ali-Osman, F; Sadetzki, S; Jenkins, RB; Lachance, DH; Olson, SH; Bernstein, JL; Merrell, RT; Wrensch, MR; Johansen, C; Houlston, RS; Scheurer, ME; Shete, S; Amos, CI; Melin, B; Bondy, ML (2019-03)
    BACKGROUND: There have been few studies of sufficient size to address the relationship between glioma risk and the use of aspirin or NSAIDs, and results have been conflicting. The purpose of this study was to examine the ...
  • Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. 

    Qian, F; Wang, S; Mitchell, J; McGuffog, L; Barrowdale, D; Leslie, G; Oosterwijk, JC; Chung, WK; Evans, DG; Engel, C; Kast, K; Aalfs, CM; Adank, MA; Adlard, J; Agnarsson, BA; Aittomäki, K; Alducci, E; Andrulis, IL; Arun, BK; Ausems, MGEM; Azzollini, J; Barouk-Simonet, E; Barwell, J; Belotti, M; Benitez, J; Berger, A; Borg, A; Bradbury, AR; Brunet, J; Buys, SS; Caldes, T; Caligo, MA; Campbell, I; Caputo, SM; Chiquette, J; Claes, KBM; Margriet Collée, J; Couch, FJ; Coupier, I; Daly, MB; Davidson, R; Diez, O; Domchek, SM; Donaldson, A; Dorfling, CM; Eeles, R; Feliubadaló, L; Foretova, L; Fowler, J; Friedman, E; Frost, D; Ganz, PA; Garber, J; Garcia-Barberan, V; Glendon, G; Godwin, AK; Gómez Garcia, EB; Gronwald, J; Hahnen, E; Hamann, U; Henderson, A; Hendricks, CB; Hopper, JL; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Izquierdo, Á; Jakubowska, A; Kaczmarek, K; Kang, E; Karlan, BY; Kets, CM; Kim, S-W; Kim, Z; Kwong, A; Laitman, Y; Lasset, C; Hyuk Lee, M; Won Lee, J; Lee, J; Lester, J; Lesueur, F; Loud, JT; Lubinski, J; Mebirouk, N; Meijers-Heijboer, HEJ; Meindl, A; Miller, A; Montagna, M; Mooij, TM; Morrison, PJ; Mouret-Fourme, E; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Niederacher, D; Nielsen, FC; Nussbaum, RL; Offit, K; Olah, E; Ong, K-R; Ottini, L; Park, SK; Peterlongo, P; Pfeiler, G; Phelan, CM; Poppe, B; Pradhan, N; Radice, P; Ramus, SJ; Rantala, J; Robson, M; Rodriguez, GC; Schmutzler, RK; Hutten Selkirk, CG; Shah, PD; Simard, J; Singer, CF; Sokolowska, J; Stoppa-Lyonnet, D; Sutter, C; Yen Tan, Y; Teixeira, RM; Teo, SH; Terry, MB; Thomassen, M; Tischkowitz, M; Toland, AE; Tucker, KM; Tung, N; van Asperen, CJ; van Engelen, K; van Rensburg, EJ; Wang-Gohrke, S; Wappenschmidt, B; Weitzel, JN; Yannoukakos, D; GEMO Study Collaborators; HEBON; EMBRACE; Greene, MH; Rookus, MA; Easton, DF; Chenevix-Trench, G; Antoniou, AC; Goldgar, DE; Olopade, OI; Rebbeck, TR; Huo, D (2019-04-01)
    BACKGROUND: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains ...
  • Types of second primary cancers influence survival in chronic lymphocytic and hairy cell leukemia patients. 

    Zheng, G; Chattopadhyay, S; Sud, A; Sundquist, K; Sundquist, J; Försti, A; Houlston, RS; Hemminki, A; Hemminki, K (2019-03-26)
  • Genome-wide association study of germline variants and breast cancer-specific mortality. 

    Escala-Garcia, M; Guo, Q; Dörk, T; Canisius, S; Keeman, R; Dennis, J; Beesley, J; Lecarpentier, J; Bolla, MK; Wang, Q; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; Auer, PL; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; Bernstein, L; Blomqvist, C; Boeckx, B; Bojesen, SE; Bonanni, B; Børresen-Dale, A-L; Brauch, H; Brenner, H; Brentnall, A; Brinton, L; Broberg, P; Brock, IW; Brucker, SY; Burwinkel, B; Caldas, C; Caldés, T; Campa, D; Canzian, F; Carracedo, A; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Chenevix-Trench, G; Cheng, T-YD; Chin, S-F; Clarke, CL; NBCS Collaborators; Cordina-Duverger, E; Couch, FJ; Cox, DG; Cox, A; Cross, SS; Czene, K; Daly, MB; Devilee, P; Dunn, JA; Dunning, AM; Durcan, L; Dwek, M; Earl, HM; Ekici, AB; Eliassen, AH; Ellberg, C; Engel, C; Eriksson, M; Evans, DG; Figueroa, J; Flesch-Janys, D; Flyger, H; Gabrielson, M; Gago-Dominguez, M; Galle, E; Gapstur, SM; García-Closas, M; García-Sáenz, JA; Gaudet, MM; George, A; Georgoulias, V; Giles, GG; Glendon, G; Goldgar, DE; González-Neira, A; Alnæs, GIG; Grip, M; Guénel, P; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Hankinson, S; Harkness, EF; Harrington, PA; Hart, SN; Hartikainen, JM; Hein, A; Hillemanns, P; Hiller, L; Holleczek, B; Hollestelle, A; Hooning, MJ; Hoover, RN; Hopper, JL; Howell, A; Huang, G; Humphreys, K; Hunter, DJ; Janni, W; John, EM; Jones, ME; Jukkola-Vuorinen, A; Jung, A; Kaaks, R; Kabisch, M; Kaczmarek, K; Kerin, MJ; Khan, S; Khusnutdinova, E; Kiiski, JI; Kitahara, CM; Knight, JA; Ko, Y-D; Koppert, LB; Kosma, V-M; Kraft, P; Kristensen, VN; Krüger, U; Kühl, T; Lambrechts, D; Le Marchand, L; Lee, E; Lejbkowicz, F; Li, L; Lindblom, A; Lindström, S; Linet, M; Lissowska, J; Lo, W-Y; Loibl, S; Lubiński, J; Lux, MP; MacInnis, RJ; Maierthaler, M; Maishman, T; Makalic, E; Mannermaa, A; Manoochehri, M; Manoukian, S; Margolin, S; Martinez, ME; Mavroudis, D; McLean, C; Meindl, A; Middha, P; Miller, N; Milne, RL; Moreno, F; Mulligan, AM; Mulot, C; Nassir, R; Neuhausen, SL; Newman, WT; Nielsen, SF; Nordestgaard, BG; Norman, A; Olsson, H; Orr, N; Pankratz, VS; Park-Simon, T-W; Perez, JIA; Pérez-Barrios, C; Peterlongo, P; Petridis, C; Pinchev, M; Prajzendanc, K; Prentice, R; Presneau, N; Prokofieva, D; Pylkäs, K; Rack, B; Radice, P; Ramachandran, D; Rennert, G; Rennert, HS; Rhenius, V; Romero, A; Roylance, R; Saloustros, E; Sawyer, EJ; Schmidt, DF; Schmutzler, RK; Schneeweiss, A; Schoemaker, MJ; Schumacher, F; Schwentner, L; Scott, RJ; Scott, C; Seynaeve, C; Shah, M; Simard, J; Smeets, A; Sohn, C; Southey, MC; Swerdlow, AJ; Talhouk, A; Tamimi, RM; Tapper, WJ; Teixeira, MR; Tengström, M; Terry, MB; Thöne, K; Tollenaar, RAEM; Tomlinson, I; Torres, D; Truong, T; Turman, C; Turnbull, C; Ulmer, H-U; Untch, M; Vachon, C; van Asperen, CJ; van den Ouweland, AMW; van Veen, EM; Wendt, C; Whittemore, AS; Willett, W; Winqvist, R; Wolk, A; Yang, XR; Zhang, Y; Easton, DF; Fasching, PA; Nevanlinna, H; Eccles, DM; Pharoah, PDP; Schmidt, MK (2019-03)
    BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models ...
  • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. 

    Leongamornlert, DA; Saunders, EJ; Wakerell, S; Whitmore, I; Dadaev, T; Cieza-Borrella, C; Benafif, S; Brook, MN; Donovan, JL; Hamdy, FC; Neal, DE; Muir, K; Govindasami, K; Conti, DV; Kote-Jarai, Z; Eeles, RA (2019-02-15)
    BACKGROUND: Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. OBJECTIVE: To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and ...
  • Three-dimensional cardiovascular imaging-genetics: a mass univariate framework. 

    Biffi, C; de Marvao, A; Attard, MI; Dawes, TJW; Whiffin, N; Bai, W; Shi, W; Francis, C; Meyer, H; Buchan, R; Cook, SA; Rueckert, D; O'Regan, DP (2018-01-01)
    Motivation: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and ...
  • CoverView: a sequence quality evaluation tool for next generation sequencing data. 

    Münz, M; Mahamdallie, S; Yost, S; Rimmer, A; Poyastro-Pearson, E; Strydom, A; Seal, S; Ruark, E; Rahman, N (2018)
    Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped ...
  • The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 

    Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018)
    Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...
  • The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing. 

    Mahamdallie, S; Ruark, E; Holt, E; Poyastro-Pearson, E; Renwick, A; Strydom, A; Seal, S; Rahman, N (2018)
    The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability of the test to detect real sequence variation. The evaluation of analytical sensitivity relies on the availability of gold-standard, ...
  • The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance. 

    Mahamdallie, S; Ruark, E; Yost, S; Münz, M; Renwick, A; Poyastro-Pearson, E; Strydom, A; Seal, S; Rahman, N (2018)
    Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ...
  • ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series. 

    Ruark, E; Holt, E; Renwick, A; Münz, M; Wakeling, M; Ellard, S; Mahamdallie, S; Yost, S; Rahman, N (2018)
    Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ...
  • Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 

    Kelly, MA; Caleshu, C; Morales, A; Buchan, J; Wolf, Z; Harrison, SM; Cook, S; Dillon, MW; Garcia, J; Haverfield, E; Jongbloed, JDH; Macaya, D; Manrai, A; Orland, K; Richard, G; Spoonamore, K; Thomas, M; Thomson, K; Vincent, LM; Walsh, R; Watkins, H; Whiffin, N; Ingles, J; van Tintelen, JP; Semsarian, C; Ware, JS; Hershberger, R; Funke, B (2018-03)
    PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
  • Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 

    Tanskanen, T; van den Berg, L; Välimäki, N; Aavikko, M; Ness-Jensen, E; Hveem, K; Wettergren, Y; Bexe Lindskog, E; Tõnisson, N; Metspalu, A; Silander, K; Orlando, G; Law, PJ; Tuupanen, S; Gylfe, AE; Hänninen, UA; Cajuso, T; Kondelin, J; Sarin, A-P; Pukkala, E; Jousilahti, P; Salomaa, V; Ripatti, S; Palotie, A; Järvinen, H; Renkonen-Sinisalo, L; Lepistö, A; Böhm, J; Mecklin, J-P; Al-Tassan, NA; Palles, C; Martin, L; Barclay, E; Tenesa, A; Farrington, SM; Timofeeva, MN; Meyer, BF; Wakil, SM; Campbell, H; Smith, CG; Idziaszczyk, S; Maughan, TS; Kaplan, R; Kerr, R; Kerr, D; Buchanan, DD; Win, AK; Hopper, J; Jenkins, MA; Newcomb, PA; Gallinger, S; Conti, D; Schumacher, FR; Casey, G; Cheadle, JP; Dunlop, MG; Tomlinson, IP; Houlston, RS; Palin, K; Aaltonen, LA (2018-02-01)
    Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm ...
  • Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study. 

    He, Y; Timofeeva, M; Farrington, SM; Vaughan-Shaw, P; Svinti, V; Walker, M; Zgaga, L; Meng, X; Li, X; Spiliopoulou, A; Jiang, X; Hyppönen, E; Kraft, P; Kiel, DP; SUNLIGHT consortium; Hayward, C; Campbell, A; Porteous, D; Vucic, K; Kirac, I; Filipovic, M; Harris, SE; Deary, IJ; Houlston, R; Tomlinson, IP; Campbell, H; Theodoratou, E; Dunlop, MG (2018-08-14)
    BACKGROUND: Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since ...
  • Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study. 

    Dimitrakopoulou, VI; Tsilidis, KK; Haycock, PC; Dimou, NL; Al-Dabhani, K; Martin, RM; Lewis, SJ; Gunter, MJ; Mondul, A; Shui, IM; Theodoratou, E; Nimptsch, K; Lindström, S; Albanes, D; Kühn, T; Key, TJ; Travis, RC; Vimaleswaran, KS; GECCO Consortium; PRACTICAL Consortium; GAME-ON Network (CORECT, DRIVE, ELLIPSE, FOCI-OCAC, TRICL-ILCCO); Kraft, P; Pierce, BL; Schildkraut, JM (2017-10-31)
    Objective To determine if circulating concentrations of vitamin D are causally associated with risk of cancer.Design Mendelian randomisation study.Setting Large genetic epidemiology networks (the Genetic Associations and ...

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