Bojesen, SE; Pooley, KA; Johnatty, SE; Beesley, J; Michailidou, K; Tyrer, JP; Edwards, SL; Pickett, HA; Shen, HC; Smart, CE; Hillman, KM; Mai, PL; Lawrenson, K; Stutz, MD; Lu, Y; Karevan, R; Woods, N; Johnston, RL; French, JD; Chen, X; Weischer, M; Nielsen, SF; Maranian, MJ; Ghoussaini, M; Ahmed, S; Baynes, C; Bolla, MK; Wang, Q; Dennis, J; McGuffog, L; Barrowdale, D; Lee, A; Healey, S; Lush, M; Tessier, DC; Vincent, D; Bacot, F; Vergote, I; Lambrechts, S; Despierre, E; Risch, HA; González-Neira, A; Rossing, MA; Pita, G; Doherty, JA; Alvarez, N; Larson, MC; Fridley, BL; Schoof, N; Chang-Claude, J; Cicek, MS; Peto, J; Kalli, KR; Broeks, A; Armasu, SM; Schmidt, MK; Braaf, LM; Winterhoff, B; Nevanlinna, H; Konecny, GE; Lambrechts, D; Rogmann, L; Guénel, P; Teoman, A; Milne, RL; Garcia, JJ; Cox, A; Shridhar, V; Burwinkel, B; Marme, F; Hein, R; Sawyer, EJ; Haiman, CA; Wang-Gohrke, S; Andrulis, IL; Moysich, KB; Hopper, JL; Odunsi, K; Lindblom, A; Giles, GG; Brenner, H; Simard, J; Lurie, G; Fasching, PA; 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Laitman, Y; Skytte, AB; Kruse, TA; Jensen, UB; Robson, M; Gerdes, AM; Ejlertsen, B; Foretova, L; Savage, SA; Lester, J; Soucy, P; Kuchenbaecker, KB; Olswold, C; Cunningham, JM; Slager, S; Pankratz, VS; Dicks, E; Lakhani, SR; Couch, FJ; Hall, P; Monteiro, AN; Gayther, SA; Pharoah, PD; Reddel, RR; Goode, EL; Greene, MH; Easton, DF; Berchuck, A; Antoniou, AC; Chenevix-Trench, G; Dunning, AM     «

Bojesen, SE; Pooley, KA; Johnatty, SE; Beesley, J; Michailidou, K; Tyrer, JP; Edwards, SL; Pickett, HA; Shen, HC; Smart, CE; Hillman, KM; Mai, PL; Lawrenson, K; Stutz, MD; Lu, Y; Karevan, R; Woods, N; Johnston, RL; French, JD; Chen, X; Weischer, M; Nielsen, SF; Maranian, MJ; Ghoussaini, M; Ahmed, S; Baynes, C; Bolla, MK; Wang, Q; Dennis, J; McGuffog, L; Barrowdale, D; Lee, A; Healey, S; Lush, M; Tessier, DC; Vincent, D; Bacot, F; Vergote, I; Lambrechts, S; Despierre, E; Risch, HA; González-Neira...     »

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10(-12)) and BRCA1 mutation carrier (P = 1.6 × 10(-14)) breast and invasive ovarian (P = 1.3 × 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.     «

TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates wi...     »