Now showing items 1-20 of 107

    • Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 

      Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; Milne, RL; Schmidt, MK; Chang-Claude, J; Bojesen, SE; Bolla, MK; Wang, Q; Dicks, E; Lee, A; Turnbull, C; Rahman, N; Fletcher, O; Peto, J; Gibson, L; Dos Santos Silva, I; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Czene, K; Irwanto, A; Liu, J; Waisfisz, Q; Meijers-Heijboer, H; Adank, M; van der Luijt, RB; Hein, R; Dahmen, N; Beckman, L; Meindl, A; Schmutzler, RK; Müller-Myhsok, B; Lichtner, P; Hopper, JL; Southey, MC; Makalic, E; Schmidt, DF; Uitterlinden, AG; Hofman, A; Hunter, DJ; Chanock, SJ; Vincent, D; Bacot, F; Tessier, DC; Canisius, S; Wessels, LF; Haiman, CA; Shah, M; Luben, R; Brown, J; Luccarini, C; Schoof, N; Humphreys, K; Li, J; Nordestgaard, BG; Nielsen, SF; Flyger, H; Couch, FJ; Wang, X; Vachon, C; Stevens, KN; Lambrechts, D; Moisse, M; Paridaens, R; Christiaens, MR; Rudolph, A; Nickels, S; Flesch-Janys, D; Johnson, N; Aitken, Z; Aaltonen, K; Heikkinen, T; Broeks, A; Veer, LJ; van der Schoot, CE; Guénel, P; Truong, T; Laurent-Puig, P; Menegaux, F; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Zamora, MP; Perez, JI; Pita, G; Alonso, MR; Cox, A; Brock, IW; Cross, SS; Reed, MW; Sawyer, EJ; Tomlinson, I; Kerin, MJ; Miller, N; Henderson, BE; Schumacher, F; Le Marchand, L; Andrulis, IL; Knight, JA; Glendon, G; Mulligan, AM; Lindblom, A; Margolin, S; Hooning, MJ; Hollestelle, A; van den Ouweland, AM; Jager, A; Bui, QM; Stone, J; Dite, GS; Apicella, C; Tsimiklis, H; Giles, GG; Severi, G; Baglietto, L; Fasching, PA; Haeberle, L; Ekici, AB; Beckmann, MW; Brenner, H; Müller, H; Arndt, V; Stegmaier, C; Swerdlow, A; Ashworth, A; Orr, N; Jones, M; Figueroa, J; Lissowska, J; Brinton, L; Goldberg, MS; Labrèche, F; Dumont, M; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Brauch, H; Hamann, U; Brüning, T; Radice, P; Peterlongo, P; Manoukian, S; Bonanni, B; Devilee, P; Tollenaar, RA; Seynaeve, C; van Asperen, CJ; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Mannermaa, A; Kataja, V; Kosma, VM; Hartikainen, JM; Bogdanova, NV; Antonenkova, NN; Dörk, T; Kristensen, VN; Anton-Culver, H; Slager, S; Toland, AE; Edge, S; Fostira, F; Kang, D; Yoo, KY; Noh, DY; Matsuo, K; Ito, H; Iwata, H; Sueta, A; Wu, AH; Tseng, CC; Van Den Berg, D; Stram, DO; Shu, XO; Lu, W; Gao, YT; Cai, H; Teo, SH; Yip, CH; Phuah, SY; Cornes, BK; Hartman, M; Miao, H; Lim, WY; Sng, JH; Muir, K; Lophatananon, A; Stewart-Brown, S; Siriwanarangsan, P; Shen, CY; Hsiung, CN; Wu, PE; Ding, SL; Sangrajrang, S; Gaborieau, V; Brennan, P; McKay, J; Blot, WJ; Signorello, LB; Cai, Q; Zheng, W; Deming-Halverson, S; Shrubsole, M; Long, J; Simard, J; Garcia-Closas, M; Pharoah, PD; Chenevix-Trench, G; Dunning, AM; Benitez, J; Easton, DF (2013-04)
      Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ...
    • Diffusion-weighted MRI for detecting prostate tumour in men at increased genetic risk. 

      deSouza, NM; Morgan, VA; Bancroft, E; Sohaib, SA; Giles, SL; Kote-Jarai, Z; Castro, E; Hazell, S; Jafar, M; Eeles, R (2014-01)
      Diffusion-weighted (DW)-MRI is invaluable in detecting prostate cancer. We determined its sensitivity and specificity and established interobserver agreement for detecting tumour in men with a family history of prostate ...
    • Genome-wide homozygosity signature and risk of Hodgkin lymphoma. 

      Sud, A; Cooke, R; Swerdlow, AJ; Houlston, RS (2015-01)
      Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated ...
    • Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis. 

      Sud, A; Hemminki, K; Houlston, RS (2015-06-05)
      To evaluate the contribution of association studies of candidate polymorphisms to inherited predisposition to Hodgkin lymphoma (HL), we conducted a systematic review and meta-analysis of published case-control studies. Of ...
    • CanVar: A resource for sharing germline variation in cancer patients. 

      Chubb, D; Broderick, P; Dobbins, SE; Houlston, RS (2016)
      The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ...
    • Psychological stress, adverse life events and breast cancer incidence: a cohort investigation in 106,000 women in the United Kingdom. 

      Schoemaker, MJ; Jones, ME; Wright, LB; Griffin, J; McFadden, E; Ashworth, A; Swerdlow, AJ (2016-01)
      Women diagnosed with breast cancer frequently attribute their cancer to psychological stress, but scientific evidence is inconclusive. We investigated whether experienced frequency of stress and adverse life events affect ...
    • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. 

      Vigorito, E; Kuchenbaecker, KB; Beesley, J; Adlard, J; Agnarsson, BA; Andrulis, IL; Arun, BK; Barjhoux, L; Belotti, M; Benitez, J; Berger, A; Bojesen, A; Bonanni, B; Brewer, C; Caldes, T; Caligo, MA; Campbell, I; Chan, SB; Claes, KB; Cohn, DE; Cook, J; Daly, MB; Damiola, F; Davidson, R; Pauw, A; Delnatte, C; Diez, O; Domchek, SM; Dumont, M; Durda, K; Dworniczak, B; Easton, DF; Eccles, D; Edwinsdotter Ardnor, C; Eeles, R; Ejlertsen, B; Ellis, S; Evans, DG; Feliubadalo, L; Fostira, F; Foulkes, WD; Friedman, E; Frost, D; Gaddam, P; Ganz, PA; Garber, J; Garcia-Barberan, V; Gauthier-Villars, M; Gehrig, A; Gerdes, AM; Giraud, S; Godwin, AK; Goldgar, DE; Hake, CR; Hansen, TV; Healey, S; Hodgson, S; Hogervorst, FB; Houdayer, C; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Izquierdo, A; Jacobs, L; Jakubowska, A; Janavicius, R; Jaworska-Bieniek, K; Jensen, UB; John, EM; Vijai, J; Karlan, BY; Kast, K; Investigators, K; Khan, S; Kwong, A; Laitman, Y; Lester, J; Lesueur, F; Liljegren, A; Lubinski, J; Mai, PL; Manoukian, S; Mazoyer, S; Meindl, A; Mensenkamp, AR; Montagna, M; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Niederacher, D; Olah, E; Olopade, OI; Ong, KR; Osorio, A; Park, SK; Paulsson-Karlsson, Y; Pedersen, IS; Peissel, B; Peterlongo, P; Pfeiler, G; Phelan, CM; Piedmonte, M; Poppe, B; Pujana, MA; Radice, P; Rennert, G; Rodriguez, GC; Rookus, MA; Ross, EA; Schmutzler, RK; Simard, J; Singer, CF; Slavin, TP; Soucy, P; Southey, M; Steinemann, D; Stoppa-Lyonnet, D; Sukiennicki, G; Sutter, C; Szabo, CI; Tea, MK; Teixeira, MR; Teo, SH; Terry, MB; Thomassen, M; Tibiletti, MG; Tihomirova, L; Tognazzo, S; van Rensburg, EJ; Varesco, L; Varon-Mateeva, R; Vratimos, A; Weitzel, JN; McGuffog, L; Kirk, J; Toland, AE; Hamann, U; Lindor, N; Ramus, SJ; Greene, MH; Couch, FJ; Offit, K; Pharoah, PD; Chenevix-Trench, G; Antoniou, AC (2016-01)
      Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale ...
    • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 

      Zeng, C; Guo, X; Long, J; Kuchenbaecker, KB; Droit, A; Michailidou, K; Ghoussaini, M; Kar, S; Freeman, A; Hopper, JL; Milne, RL; Bolla, MK; Wang, Q; Dennis, J; Agata, S; Ahmed, S; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arason, A; Arndt, V; Arun, BK; Arver, B; Bacot, F; Barrowdale, D; Baynes, C; Beeghly-Fadiel, A; Benitez, J; Bermisheva, M; Blomqvist, C; Blot, WJ; Bogdanova, NV; Bojesen, SE; Bonanni, B; Borresen-Dale, AL; Brand, JS; Brauch, H; Brennan, P; Brenner, H; Broeks, A; Brüning, T; Burwinkel, B; Buys, SS; Cai, Q; Caldes, T; Campbell, I; Carpenter, J; Chang-Claude, J; Choi, JY; Claes, KB; Clarke, C; Cox, A; Cross, SS; Czene, K; Daly, MB; de la Hoya, M; De Leeneer, K; Devilee, P; Diez, O; Domchek, SM; Doody, M; Dorfling, CM; Dörk, T; Dos-Santos-Silva, I; Dumont, M; Dwek, M; Dworniczak, B; Egan, K; Eilber, U; Einbeigi, Z; Ejlertsen, B; Ellis, S; Frost, D; Lalloo, F; Fasching, PA; Figueroa, J; Flyger, H; Friedlander, M; Friedman, E; Gambino, G; Gao, YT; Garber, J; García-Closas, M; Gehrig, A; Damiola, F; Lesueur, F; Mazoyer, S; Stoppa-Lyonnet, D; Giles, GG; Godwin, AK; Goldgar, DE; González-Neira, A; Greene, MH; Guénel, P; Haeberle, L; Haiman, CA; Hallberg, E; Hamann, U; Hansen, TV; Hart, S; Hartikainen, JM; Hartman, M; Hassan, N; Healey, S; Hogervorst, FB; Verhoef, S; Hendricks, CB; Hillemanns, P; Hollestelle, A; Hulick, PJ; Hunter, DJ; Imyanitov, EN; Isaacs, C; Ito, H; Jakubowska, A; Janavicius, R; Jaworska-Bieniek, K; Jensen, UB; John, EM; Joly Beauparlant, C; Jones, M; Kabisch, M; Kang, D; Karlan, BY; Kauppila, S; Kerin, MJ; Khan, S; Khusnutdinova, E; Knight, JA; Konstantopoulou, I; Kraft, P; Kwong, A; Laitman, Y; Lambrechts, D; Lazaro, C; Le Marchand, L; Lee, CN; Lee, MH; Lester, J; Li, J; Liljegren, A; Lindblom, A; Lophatananon, A; Lubinski, J; Mai, PL; Mannermaa, A; Manoukian, S; Margolin, S; Marme, F; Matsuo, K; McGuffog, L; Meindl, A; Menegaux, F; Montagna, M; Muir, K; Mulligan, AM; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Newcomb, PA; Nord, S; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olswold, C; Osorio, A; Papi, L; Park-Simon, TW; Paulsson-Karlsson, Y; Peeters, S; Peissel, B; Peterlongo, P; Peto, J; Pfeiler, G; Phelan, CM; Presneau, N; Radice, P; Rahman, N; Ramus, SJ; Rashid, MU; Rennert, G; Rhiem, K; Rudolph, A; Salani, R; Sangrajrang, S; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Schoemaker, MJ; Schürmann, P; Seynaeve, C; Shen, CY; Shrubsole, MJ; Shu, XO; Sigurdson, A; Singer, CF; Slager, S; Soucy, P; Southey, M; Steinemann, D; Swerdlow, A; Szabo, CI; Tchatchou, S; Teixeira, MR; Teo, SH; Terry, MB; Tessier, DC; Teulé, A; Thomassen, M; Tihomirova, L; Tischkowitz, M; Toland, AE; Tung, N; Turnbull, C; van den Ouweland, AM; van Rensburg, EJ; Ven den Berg, D; Vijai, J; Wang-Gohrke, S; Weitzel, JN; Whittemore, AS; Winqvist, R; Wong, TY; Wu, AH; Yannoukakos, D; Yu, JC; Pharoah, PD; Hall, P; Chenevix-Trench, G; Dunning, AM; Simard, J; Couch, FJ; Antoniou, AC; Easton, DF; Zheng, W (2016-01)
      Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.We performed a fine-scale mapping study of a ...
    • Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). 

      Darabi, H; Beesley, J; Droit, A; Kar, S; Nord, S; Moradi Marjaneh, M; Soucy, P; Michailidou, K; Ghoussaini, M; Fues Wahl, H; Bolla, MK; Wang, Q; Dennis, J; Alonso, MR; Andrulis, IL; Anton-Culver, H; Arndt, V; Beckmann, MW; Benitez, J; Bogdanova, NV; Bojesen, SE; Brauch, H; Brenner, H; Broeks, A; Brüning, T; Burwinkel, B; Chang-Claude, J; Choi, JY; Conroy, DM; Couch, FJ; Cox, A; Cross, SS; Czene, K; Devilee, P; Dörk, T; Easton, DF; Fasching, PA; Figueroa, J; Fletcher, O; Flyger, H; Galle, E; García-Closas, M; Giles, GG; Goldberg, MS; González-Neira, A; Guénel, P; Haiman, CA; Hallberg, E; Hamann, U; Hartman, M; Hollestelle, A; Hopper, JL; Ito, H; Jakubowska, A; Johnson, N; Kang, D; Khan, S; Kosma, VM; Kriege, M; Kristensen, V; Lambrechts, D; Le Marchand, L; Lee, SC; Lindblom, A; Lophatananon, A; Lubinski, J; Mannermaa, A; Manoukian, S; Margolin, S; Matsuo, K; Mayes, R; McKay, J; Meindl, A; Milne, RL; Muir, K; Neuhausen, SL; Nevanlinna, H; Olswold, C; Orr, N; Peterlongo, P; Pita, G; Pylkäs, K; Rudolph, A; Sangrajrang, S; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Seynaeve, C; Shah, M; Shen, CY; Shu, XO; Southey, MC; Stram, DO; Surowy, H; Swerdlow, A; Teo, SH; Tessier, DC; Tomlinson, I; Torres, D; Truong, T; Vachon, CM; Vincent, D; Winqvist, R; Wu, AH; Wu, PE; Yip, CH; Zheng, W; Pharoah, PD; Hall, P; Edwards, SL; Simard, J; French, JD; Chenevix-Trench, G; Dunning, AM (2016-01)
      Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis ...
    • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. 

      Lawrenson, K; Kar, S; McCue, K; Kuchenbaeker, K; Michailidou, K; Tyrer, J; Beesley, J; Ramus, SJ; Li, Q; Delgado, MK; Lee, JM; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Arun, BK; Arver, B; Bandera, EV; Barile, M; Barkardottir, RB; Barrowdale, D; Beckmann, MW; Benitez, J; Berchuck, A; Bisogna, M; Bjorge, L; Blomqvist, C; Blot, W; Bogdanova, N; Bojesen, A; Bojesen, SE; Bolla, MK; Bonanni, B; Børresen-Dale, AL; Brauch, H; Brennan, P; Brenner, H; Bruinsma, F; Brunet, J; Buhari, SA; Burwinkel, B; Butzow, R; Buys, SS; Cai, Q; Caldes, T; Campbell, I; Canniotto, R; Chang-Claude, J; Chiquette, J; Choi, JY; Claes, KB; Cook, LS; Cox, A; Cramer, DW; Cross, SS; Cybulski, C; Czene, K; Daly, MB; Damiola, F; Dansonka-Mieszkowska, A; Darabi, H; Dennis, J; Devilee, P; Diez, O; Doherty, JA; Domchek, SM; Dorfling, CM; Dörk, T; Dumont, M; Ehrencrona, H; Ejlertsen, B; Ellis, S; Engel, C; Lee, E; Evans, DG; Fasching, PA; Feliubadalo, L; Figueroa, J; Flesch-Janys, D; Fletcher, O; Flyger, H; Foretova, L; Fostira, F; Foulkes, WD; Fridley, BL; Friedman, E; Frost, D; Gambino, G; Ganz, PA; Garber, J; García-Closas, M; Gentry-Maharaj, A; Ghoussaini, M; Giles, GG; Glasspool, R; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Goode, EL; Goodman, MT; Greene, MH; Gronwald, J; Guénel, P; Haiman, CA; Hall, P; Hallberg, E; Hamann, U; Hansen, TV; Harrington, PA; Hartman, M; Hassan, N; Healey, S; Heitz, F; Herzog, J; Høgdall, E; Høgdall, CK; Hogervorst, FB; Hollestelle, A; Hopper, JL; Hulick, PJ; Huzarski, T; Imyanitov, EN; Isaacs, C; Ito, H; Jakubowska, A; Janavicius, R; Jensen, A; John, EM; Johnson, N; Kabisch, M; Kang, D; Kapuscinski, M; Karlan, BY; Khan, S; Kiemeney, LA; Kjaer, SK; Knight, JA; Konstantopoulou, I; Kosma, VM; Kristensen, V; Kupryjanczyk, J; Kwong, A; de la Hoya, M; Laitman, Y; Lambrechts, D; Le, N; De Leeneer, K; Lester, J; Levine, DA; Li, J; Lindblom, A; Long, J; Lophatananon, A; Loud, JT; Lu, K; Lubinski, J; Mannermaa, A; Manoukian, S; Le Marchand, L; Margolin, S; Marme, F; Massuger, LF; Matsuo, K; Mazoyer, S; McGuffog, L; McLean, C; McNeish, I; Meindl, A; Menon, U; Mensenkamp, AR; Milne, RL; Montagna, M; Moysich, KB; Muir, K; Mulligan, AM; Nathanson, KL; Ness, RB; Neuhausen, SL; Nevanlinna, H; Nord, S; Nussbaum, RL; Odunsi, K; Offit, K; Olah, E; Olopade, OI; Olson, JE; Olswold, C; O'Malley, D; Orlow, I; Orr, N; Osorio, A; Park, SK; Pearce, CL; Pejovic, T; Peterlongo, P; Pfeiler, G; Phelan, CM; Poole, EM; Pylkäs, K; Radice, P; Rantala, J; Rashid, MU; Rennert, G; Rhenius, V; Rhiem, K; Risch, HA; Rodriguez, G; Rossing, MA; Rudolph, A; Salvesen, HB; Sangrajrang, S; Sawyer, EJ; Schildkraut, JM; Schmidt, MK; Schmutzler, RK; Sellers, TA; Seynaeve, C; Shah, M; Shen, CY; Shu, XO; Sieh, W; Singer, CF; Sinilnikova, OM; Slager, S; Song, H; Soucy, P; Southey, MC; Stenmark-Askmalm, M; Stoppa-Lyonnet, D; Sutter, C; Swerdlow, A; Tchatchou, S; Teixeira, MR; Teo, SH; Terry, KL; Terry, MB; Thomassen, M; Tibiletti, MG; Tihomirova, L; Tognazzo, S; Toland, AE; Tomlinson, I; Torres, D; Truong, T; Tseng, CC; Tung, N; Tworoger, SS; Vachon, C; van den Ouweland, AM; van Doorn, HC; van Rensburg, EJ; Van't Veer, LJ; Vanderstichele, A; Vergote, I; Vijai, J; Wang, Q; Wang-Gohrke, S; Weitzel, JN; Wentzensen, N; Whittemore, AS; Wildiers, H; Winqvist, R; Wu, AH; Yannoukakos, D; Yoon, SY; Yu, JC; Zheng, W; Zheng, Y; Khanna, KK; Simard, J; Monteiro, AN; French, JD; Couch, FJ; Freedman, ML; Easton, DF; Dunning, AM; Pharoah, PD; Edwards, SL; Chenevix-Trench, G; Antoniou, AC; Gayther, SA (2016-01)
      A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ...
    • Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 

      Mitchell, JS; Li, N; Weinhold, N; Försti, A; Ali, M; van Duin, M; Thorleifsson, G; Johnson, DC; Chen, B; Halvarsson, BM; Gudbjartsson, DF; Kuiper, R; Stephens, OW; Bertsch, U; Broderick, P; Campo, C; Einsele, H; Gregory, WA; Gullberg, U; Henrion, M; Hillengass, J; Hoffmann, P; Jackson, GH; Johnsson, E; Jöud, M; Kristinsson, SY; Lenhoff, S; Lenive, O; Mellqvist, UH; Migliorini, G; Nahi, H; Nelander, S; Nickel, J; Nöthen, MM; Rafnar, T; Ross, FM; da Silva Filho, MI; Swaminathan, B; Thomsen, H; Turesson, I; Vangsted, A; Vogel, U; Waage, A; Walker, BA; Wihlborg, AK; Broyl, A; Davies, FE; Thorsteinsdottir, U; Langer, C; Hansson, M; Kaiser, M; Sonneveld, P; Stefansson, K; Morgan, GJ; Goldschmidt, H; Hemminki, K; Nilsson, B; Houlston, RS (2016-01)
      Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ...
    • Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. 

      George, A; Riddell, D; Seal, S; Talukdar, S; Mahamdallie, S; Ruark, E; Cloke, V; Slade, I; Kemp, Z; Gore, M; Strydom, A; Banerjee, S; Hanson, H; Rahman, N (2016-01)
      Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing ...
    • OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis. 

      Ruark, E; Münz, M; Clarke, M; Renwick, A; Ramsay, E; Elliott, A; Seal, S; Lunter, G; Rahman, N (2016-01)
      We present an easy-to-use, open-source Optimised Exome analysis tool, OpEx (http://icr.ac.uk/opex) that accurately detects small-scale variation, including indels, to clinical standards. We evaluated OpEx performance with ...
    • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 

      Couch, FJ; Kuchenbaecker, KB; Michailidou, K; Mendoza-Fandino, GA; Nord, S; Lilyquist, J; Olswold, C; Hallberg, E; Agata, S; Ahsan, H; Aittomäki, K; Ambrosone, C; Andrulis, IL; Anton-Culver, H; Arndt, V; Arun, BK; Arver, B; Barile, M; Barkardottir, RB; Barrowdale, D; Beckmann, L; Beckmann, MW; Benitez, J; Blank, SV; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Bolla, MK; Bonanni, B; Brauch, H; Brenner, H; Burwinkel, B; Buys, SS; Caldes, T; Caligo, MA; Canzian, F; Carpenter, J; Chang-Claude, J; Chanock, SJ; Chung, WK; Claes, KB; Cox, A; Cross, SS; Cunningham, JM; Czene, K; Daly, MB; Damiola, F; Darabi, H; de la Hoya, M; Devilee, P; Diez, O; Ding, YC; Dolcetti, R; Domchek, SM; Dorfling, CM; Dos-Santos-Silva, I; Dumont, M; Dunning, AM; Eccles, DM; Ehrencrona, H; Ekici, AB; Eliassen, H; Ellis, S; Fasching, PA; Figueroa, J; Flesch-Janys, D; Försti, A; Fostira, F; Foulkes, WD; Friebel, T; Friedman, E; Frost, D; Gabrielson, M; Gammon, MD; Ganz, PA; Gapstur, SM; Garber, J; Gaudet, MM; Gayther, SA; Gerdes, AM; Ghoussaini, M; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Greene, MH; Gronwald, J; Guénel, P; Gunter, M; Haeberle, L; Haiman, CA; Hamann, U; Hansen, TV; Hart, S; Healey, S; Heikkinen, T; Henderson, BE; Herzog, J; Hogervorst, FB; Hollestelle, A; Hooning, MJ; Hoover, RN; Hopper, JL; Humphreys, K; Hunter, DJ; Huzarski, T; Imyanitov, EN; Isaacs, C; Jakubowska, A; James, P; Janavicius, R; Jensen, UB; John, EM; Jones, M; Kabisch, M; Kar, S; Karlan, BY; Khan, S; Khaw, KT; Kibriya, MG; Knight, JA; Ko, YD; Konstantopoulou, I; Kosma, VM; Kristensen, V; Kwong, A; Laitman, Y; Lambrechts, D; Lazaro, C; Lee, E; Le Marchand, L; Lester, J; Lindblom, A; Lindor, N; Lindstrom, S; Liu, J; Long, J; Lubinski, J; Mai, PL; Makalic, E; Malone, KE; Mannermaa, A; Manoukian, S; Margolin, S; Marme, F; Martens, JW; McGuffog, L; Meindl, A; Miller, A; Milne, RL; Miron, P; Montagna, M; Mazoyer, S; Mulligan, AM; Muranen, TA; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nordestgaard, BG; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olson, JE; Osorio, A; Park, SK; Peeters, PH; Peissel, B; Peterlongo, P; Peto, J; Phelan, CM; Pilarski, R; Poppe, B; Pylkäs, K; Radice, P; Rahman, N; Rantala, J; Rappaport, C; Rennert, G; Richardson, A; Robson, M; Romieu, I; Rudolph, A; Rutgers, EJ; Sanchez, MJ; Santella, RM; Sawyer, EJ; Schmidt, DF; Schmidt, MK; Schmutzler, RK; Schumacher, F; Scott, R; Senter, L; Sharma, P; Simard, J; Singer, CF; Sinilnikova, OM; Soucy, P; Southey, M; Steinemann, D; Stenmark-Askmalm, M; Stoppa-Lyonnet, D; Swerdlow, A; Szabo, CI; Tamimi, R; Tapper, W; Teixeira, MR; Teo, SH; Terry, MB; Thomassen, M; Thompson, D; Tihomirova, L; Toland, AE; Tollenaar, RA; Tomlinson, I; Truong, T; Tsimiklis, H; Teulé, A; Tumino, R; Tung, N; Turnbull, C; Ursin, G; van Deurzen, CH; van Rensburg, EJ; Varon-Mateeva, R; Wang, Z; Wang-Gohrke, S; Weiderpass, E; Weitzel, JN; Whittemore, A; Wildiers, H; Winqvist, R; Yang, XR; Yannoukakos, D; Yao, S; Zamora, MP; Zheng, W; Hall, P; Kraft, P; Vachon, C; Slager, S; Chenevix-Trench, G; Pharoah, PD; Monteiro, AA; García-Closas, M; Easton, DF; Antoniou, AC (2016-01)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ...
    • RAD51B in Familial Breast Cancer. 

      Pelttari, LM; Khan, S; Vuorela, M; Kiiski, JI; Vilske, S; Nevanlinna, V; Ranta, S; Schleutker, J; Winqvist, R; Kallioniemi, A; Dörk, T; Bogdanova, NV; Figueroa, J; Pharoah, PD; Schmidt, MK; Dunning, AM; García-Closas, M; Bolla, MK; Dennis, J; Michailidou, K; Wang, Q; Hopper, JL; Southey, MC; Rosenberg, EH; Fasching, PA; Beckmann, MW; Peto, J; Dos-Santos-Silva, I; Sawyer, EJ; Tomlinson, I; Burwinkel, B; Surowy, H; Guénel, P; Truong, T; Bojesen, SE; Nordestgaard, BG; Benitez, J; González-Neira, A; Neuhausen, SL; Anton-Culver, H; Brenner, H; Arndt, V; Meindl, A; Schmutzler, RK; Brauch, H; Brüning, T; Lindblom, A; Margolin, S; Mannermaa, A; Hartikainen, JM; Chenevix-Trench, G; Van Dyck, L; Janssen, H; Chang-Claude, J; Rudolph, A; Radice, P; Peterlongo, P; Hallberg, E; Olson, JE; Giles, GG; Milne, RL; Haiman, CA; Schumacher, F; Simard, J; Dumont, M; Kristensen, V; Borresen-Dale, AL; Zheng, W; Beeghly-Fadiel, A; Grip, M; Andrulis, IL; Glendon, G; Devilee, P; Seynaeve, C; Hooning, MJ; Collée, M; Cox, A; Cross, SS; Shah, M; Luben, RN; Hamann, U; Torres, D; Jakubowska, A; Lubinski, J; Couch, FJ; Yannoukakos, D; Orr, N; Swerdlow, A; Darabi, H; Li, J; Czene, K; Hall, P; Easton, DF; Mattson, J; Blomqvist, C; Aittomäki, K; Nevanlinna, H (2016-01)
      Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...
    • Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation. 

      Gusev, A; Shi, H; Kichaev, G; Pomerantz, M; Li, F; Long, HW; Ingles, SA; Kittles, RA; Strom, SS; Rybicki, BA; Nemesure, B; Isaacs, WB; Zheng, W; Pettaway, CA; Yeboah, ED; Tettey, Y; Biritwum, RB; Adjei, AA; Tay, E; Truelove, A; Niwa, S; Chokkalingam, AP; John, EM; Murphy, AB; Signorello, LB; Carpten, J; Leske, MC; Wu, SY; Hennis, AJ; Neslund-Dudas, C; Hsing, AW; Chu, L; Goodman, PJ; Klein, EA; Witte, JS; Casey, G; Kaggwa, S; Cook, MB; Stram, DO; Blot, WJ; Eeles, RA; Easton, D; Kote-Jarai, Z; Al Olama, AA; Benlloch, S; Muir, K; Giles, GG; Southey, MC; Fitzgerald, LM; Gronberg, H; Wiklund, F; Aly, M; Henderson, BE; Schleutker, J; Wahlfors, T; Tammela, TL; Nordestgaard, BG; Key, TJ; Travis, RC; Neal, DE; Donovan, JL; Hamdy, FC; Pharoah, P; Pashayan, N; Khaw, KT; Stanford, JL; Thibodeau, SN; McDonnell, SK; Schaid, DJ; Maier, C; Vogel, W; Luedeke, M; Herkommer, K; Kibel, AS; Cybulski, C; Wokolorczyk, D; Kluzniak, W; Cannon-Albright, L; Teerlink, C; Brenner, H; Dieffenbach, AK; Arndt, V; Park, JY; Sellers, TA; Lin, HY; Slavov, C; Kaneva, R; Mitev, V; Batra, J; Spurdle, A; Clements, JA; Teixeira, MR; Pandha, H; Michael, A; Paulo, P; Maia, S; Kierzek, A; Conti, DV; Albanes, D; Berg, C; Berndt, SI; Campa, D; Crawford, ED; Diver, WR; Gapstur, SM; Gaziano, JM; Giovannucci, E; Hoover, R; Hunter, DJ; Johansson, M; Kraft, P; Le Marchand, L; Lindström, S; Navarro, C; Overvad, K; Riboli, E; Siddiq, A; Stevens, VL; Trichopoulos, D; Vineis, P; Yeager, M; Trynka, G; Raychaudhuri, S; Schumacher, FR; Price, AL; Freedman, ML; Haiman, CA; Pasaniuc, B (2016-01)
      Although genome-wide association studies have identified over 100 risk loci that explain ∼33% of familial risk for prostate cancer (PrCa), their functional effects on risk remain largely unknown. Here we use genotype data ...
    • Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort. 

      Bonilla, C; Lewis, SJ; Martin, RM; Donovan, JL; Hamdy, FC; Neal, DE; Eeles, R; Easton, D; Kote-Jarai, Z; Al Olama, AA; Benlloch, S; Muir, K; Giles, GG; Wiklund, F; Gronberg, H; Haiman, CA; Schleutker, J; Nordestgaard, BG; Travis, RC; 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; Pandha, H; Lathrop, M; Davey Smith, G (2016-01)
      Epidemiological studies have observed a positive association between an earlier age at sexual development and prostate cancer, but markers of sexual maturation in boys are imprecise and observational estimates are likely ...
    • Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 

      Chubb, D; Broderick, P; Dobbins, SE; Frampton, M; Kinnersley, B; Penegar, S; Price, A; Ma, YP; Sherborne, AL; Palles, C; Timofeeva, MN; Bishop, DT; Dunlop, MG; Tomlinson, I; Houlston, RS (2016-01)
      Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
    • Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. 

      Orlando, G; Law, PJ; Palin, K; Tuupanen, S; Gylfe, A; Hänninen, U; Cajuso, T; Tanskanen, T; Kondelin, J; Kaasinen, E; Sarin, AP; Kaprio, J; Eriksson, JG; Rissanen, H; Knekt, P; Pukkala, E; Jousilahti, P; Salomaa, V; Ripatti, S; Palotie, A; Järvinen, H; Renkonen-Sinisalo, L; Lepistö, A; Böhm, J; Meklin, JP; Al-Tassan, NA; Palles, C; Martin, L; Barclay, E; Tenesa, A; Farrington, S; 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, M; Lindor, NM; Newcomb, PA; Gallinger, S; Conti, D; Schumacher, F; Casey, G; Taipale, J; Cheadle, JP; Dunlop, MG; Tomlinson, IP; Aaltonen, LA; Houlston, RS (2016-03-22)
      To identify new risk loci for colorectal cancer (CRC) we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13,656 CRC cases and 21,667 controls of European ...
    • Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array. 

      Saunders, EJ; Dadaev, T; Leongamornlert, DA; Al Olama, AA; Benlloch, S; Giles, GG; Wiklund, F; Gronberg, H; Haiman, CA; Schleutker, J; Nordestgaard, BG; Travis, RC; Neal, D; Pasayan, N; Khaw, KT; Stanford, JL; Blot, WJ; Thibodeau, SN; Maier, C; Kibel, AS; Cybulski, C; Cannon-Albright, L; Brenner, H; Park, JY; Kaneva, R; Batra, J; Teixeira, MR; Pandha, H; Govindasami, K; Muir, K; Easton, DF; Eeles, RA; Kote-Jarai, Z (2016-04)
      Germline mutations within DNA-repair genes are implicated in susceptibility to multiple forms of cancer. For prostate cancer (PrCa), rare mutations in BRCA2 and BRCA1 give rise to moderately elevated risk, whereas two of ...