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Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Orr, Nick; Ashworth, Alan; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Burwinkel, Barbara; Bartram, Claus R.; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W.R.; Southey, Melissa C.; Smith, Letitia; Spurdle, Amanda B.; Hopper, John L.; Couch, Fergus J.; Olson, Janet E.; Wang, Xianshu; [...]

Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

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  • Medientyp: E-Artikel
  • Titel: Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls
  • Beteiligte: Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Orr, Nick; Ashworth, Alan; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Burwinkel, Barbara; Bartram, Claus R.; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W.R.; Southey, Melissa C.; Smith, Letitia; Spurdle, Amanda B.; Hopper, John L.; Couch, Fergus J.; Olson, Janet E.; Wang, Xianshu; [...]
  • Erschienen: American Association for Cancer Research (AACR), 2010
  • Erschienen in: Cancer Epidemiology, Biomarkers & Prevention
  • Sprache: Englisch
  • DOI: 10.1158/1055-9965.epi-10-0374
  • ISSN: 1055-9965; 1538-7755
  • Schlagwörter: Oncology ; Epidemiology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title> <jats:p>Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious.</jats:p> <jats:p>Methods: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium.</jats:p> <jats:p>Results: Combining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heterozygote for any of the SNPs and 1.51 for being a rare homozygote for any of the SNPs with an overall trend OR of 1.06 (Ptrend = 0.04). The trend OR among bilateral and familial cases was 1.12 (95% confidence interval, 1.02-1.23; Ptrend = 0.02).</jats:p> <jats:p>Conclusions: In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer.</jats:p> <jats:p>Impact: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 19(9); 2143–51. ©2010 AACR.</jats:p>
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