Browsing ICR Divisions by author "Johnson, Nichola"

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    • 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 ...

    • 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)
      INTRODUCTION: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 levels and ...