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Decker, Brennan; Allen, Jamie; Luccarini, Craig; Pooley, Karen A.; Shah, Mitul; Bolla, Manjeet K.; Wang, Qin; Ahmed, Shahana; Baynes, Caroline; Conroy, Don M.; Brown, Judith; Luben, Robert; Ostrander, Elaine A.; Pharoah, Paul D.P.; Dunning, Alison M.; Easton, Douglas F.

Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case–Control Study

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  • Media type: E-Article
  • Title: Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case–Control Study
  • Contributor: Decker, Brennan; Allen, Jamie; Luccarini, Craig; Pooley, Karen A.; Shah, Mitul; Bolla, Manjeet K.; Wang, Qin; Ahmed, Shahana; Baynes, Caroline; Conroy, Don M.; Brown, Judith; Luben, Robert; Ostrander, Elaine A.; Pharoah, Paul D.P.; Dunning, Alison M.; Easton, Douglas F.
  • Published: American Association for Cancer Research (AACR), 2019
  • Published in: Cancer Epidemiology, Biomarkers & Prevention, 28 (2019) 4, Seite 822-825
  • Language: English
  • DOI: 10.1158/1055-9965.epi-18-0298
  • ISSN: 1055-9965; 1538-7755
  • Origination:
  • Footnote:
  • Description: Abstract Background: Genes regulated by breast cancer risk alleles identified through genome-wide association studies (GWAS) may harbor rare coding risk alleles. Methods: We sequenced the coding regions for 38 genes within 500 kb of 38 lead GWAS SNPs in 13,538 breast cancer cases and 5,518 controls. Results: Truncating variants in these genes were rare, and were not associated with breast cancer risk. Burden testing of rare missense variants highlighted 5 genes with some suggestion of an association with breast cancer, although none met the multiple testing thresholds: MKL1, FTO, NEK10, MDM4, and COX11. Six common alleles in COX11, MAP3K1 (two), and NEK10 (three) were associated at the P < 0.0001 significance level, but these likely reflect linkage disequilibrium with causal regulatory variants. Conclusions: There was no evidence that rare coding variants in these genes confer substantial breast cancer risks. However, more modest effect sizes could not be ruled out. Impact: We tested the hypothesis that rare variants in 38 genes near breast cancer GWAS loci may mediate risk. These variants do not appear to play a major role in breast cancer heritability.
  • Access State: Open Access