Now showing items 1-5 of 5

    • Combined genetic and splicing analysis of BRCA1 c. 594-2A \ensuremath> C; 641A \ensuremath> G highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms 

      Johnson, Nichola (2016-06)
      We confirm that BRCA1c.[594-2A \ensuremath> C;641A \ensuremath> G] should not be considered a high-risk pathogenic variant. Importantly, results from our detailed mRNA analysis suggest that BRCA-associated cancer risk is ...
    • A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer 

      Johnson, Nichola (2011-12)
      Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined ...
    • 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 ...
    • Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? 

      Park, J; Choi, J-Y; Choi, J; Chung, S; Song, N; Park, SK; Han, W; Noh, D-Y; Ahn, S-H; Lee, JW; Kim, MK; Jee, SH; Wen, W; Bolla, MK; Wang, Q; Dennis, J; Michailidou, K; Shah, M; Conroy, DM; Harrington, PA; Mayes, R; Czene, K; Hall, P; Teras, LR; Patel, AV; Couch, FJ; Olson, JE; Sawyer, EJ; Roylance, R; Bojesen, SE; Flyger, H; Lambrechts, D; Baten, A; Matsuo, K; Ito, H; Guénel, P; Truong, T; Keeman, R; Schmidt, MK; Wu, AH; Tseng, C-C; Cox, A; Cross, SS; kConFab Investigators; Andrulis, IL; Hopper, JL; Southey, MC; Wu, P-E; Shen, C-Y; Fasching, PA; Ekici, AB; Muir, K; Lophatananon, A; Brenner, H; Arndt, V; Jones, ME; Swerdlow, AJ; Hoppe, R; Ko, Y-D; Hartman, M; Li, J; Mannermaa, A; Hartikainen, JM; Benitez, J; González-Neira, A; Haiman, CA; Dörk, T; Bogdanova, NV; Teo, SH; Mohd Taib, NA; Fletcher, O; Johnson, N; Grip, M; Winqvist, R; Blomqvist, C; Nevanlinna, H; Lindblom, A; Wendt, C; Kristensen, VN; Nbcs Collaborators; Tollenaar, RAEM; Heemskerk-Gerritsen, BAM; Radice, P; Bonanni, B; Hamann, U; Manoochehri, M; Lacey, JV; Martinez, ME; Dunning, AM; Pharoah, PDP; Easton, DF; Yoo, K-Y; Kang, D (2021-05-14)
      In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean ...
    • Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. 

      Johnson, N; Dudbridge, F; Orr, N; Gibson, L; Jones, ME; Schoemaker, MJ; Folkerd, EJ; Haynes, BP; Hopper, JL; Southey, MC; Dite, GS; Apicella, C; Schmidt, MK; Broeks, A; Van't Veer, LJ; Atsma, F; Muir, K; Lophatananon, A; Fasching, PA; Beckmann, MW; Ekici, AB; Renner, SP; Sawyer, E; Tomlinson, I; Kerin, M; Miller, N; Burwinkel, B; Marme, F; Schneeweiss, A; Sohn, C; Guénel, P; Truong, T; Cordina, E; Menegaux, F; Bojesen, SE; Nordestgaard, BG; Flyger, H; Milne, R; Zamora, MP; Arias Perez, JI; Benitez, J; Bernstein, L; Anton-Culver, H; Ziogas, A; Clarke Dur, C; Brenner, H; Müller, H; Arndt, V; Dieffenbach, AK; Meindl, A; Heil, J; Bartram, CR; Schmutzler, RK; Brauch, H; Justenhoven, C; Ko, Y-D; GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Matsuo, K; Dörk, T; Bogdanova, NV; Antonenkova, NN; Lindblom, A; Mannermaa, A; Kataja, V; Kosma, V-M; Hartikainen, JM; Chenevix-Trench, G; Beesley, J; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu, AH; Van den Berg, D; Tseng, C-C; Lambrechts, D; Smeets, D; Neven, P; Wildiers, H; Chang-Claude, J; Rudolph, A; Nickels, S; Flesch-Janys, D; Radice, P; Peterlongo, P; Bonanni, B; Pensotti, V; Couch, FJ; Olson, JE; Wang, X; Fredericksen, Z; Pankratz, VS; Giles, GG; Severi, G; Baglietto, L; Haiman, C; Simard, J; Goldberg, MS; Labrèche, F; Dumont, M; Soucy, P; Teo, S; Yip, CH; Phuah, SY; Cornes, BK; Kristensen, VN; Grenaker Alnæs, G; Børresen-Dale, A-L; Zheng, W; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Andrulis, IL; Knight, JA; Glendon, G; Mulligan, AM; Devillee, P; Figueroa, J; Chanock, SJ; Lissowska, J; Sherman, ME; Hall, P; Schoof, N; Hooning, M; Hollestelle, A; Oldenburg, RA; Tilanus-Linthorst, M; Liu, J; Cox, A; Brock, IW; Reed, MWR; Cross, SS; Blot, W; Signorello, LB; Pharoah, PDP; Dunning, AM; Shah, M; Kang, D; Noh, D-Y; Park, SK; Choi, J-Y; Hartman, M; Miao, H; Lim, WY; Tang, A; Hamann, U; Försti, A; Rüdiger, T; Ulmer, HU; Jakubowska, A; Lubinski, J; Jaworska-Bieniek, K; Durda, K; Sangrajrang, S; Gaborieau, V; Brennan, P; McKay, J; Slager, S; Toland, AE; Vachon, C; Yannoukakos, D; Shen, C-Y; Yu, J-C; Huang, C-S; Hou, M-F; González-Neira, A; Tessier, DC; Vincent, D; Bacot, F; Luccarini, C; Dennis, J; Michailidou, K; Bolla, MK; Wang, J; Easton, DF; García-Closas, M; Dowsett, M; Ashworth, A; Swerdlow, AJ; Peto, J; dos Santos Silva, I; Fletcher, O (2014-05-26)
      <h4>Introduction</h4>We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide ...