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Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions.

Publication ,  Journal Article
Kar, SP; Berchuck, A; Gayther, SA; Goode, EL; Moysich, KB; Pearce, CL; Ramus, SJ; Schildkraut, JM; Sellers, TA; Pharoah, PDP
Published in: Cancer Epidemiol Biomarkers Prev
April 2018

In this review, we summarize current progress in the genetic epidemiology of epithelial ovarian cancer (EOC), focusing exclusively on elucidating the role of common germline genetic variation in conferring susceptibility to EOC. We provide an overview of the more than 30 EOC risk loci identified to date by genome-wide association studies (GWAS) and describe the contribution of large-scale, cross-cancer type, custom genotyping projects, such as the OncoArray and the Collaborative Oncological Gene-Environment Study, to locus discovery and replication. We discuss the histotype-specific nature of these EOC risk loci, pleiotropy, or overlapping genetic effects between EOC and other hormone-related cancer types, and the application of findings to polygenic risk prediction for EOC. The second part of the article offers a concise review of primarily laboratory-based studies that have led to the identification of several putative EOC susceptibility genes using common variants at the known EOC risk loci as starting points. More global biological insights emerging from network- and pathway-based analyses of GWAS for EOC susceptibility are also highlighted. Finally, we delve into potential future directions, including the need to identify EOC risk loci in non-European populations and the next generation of GWAS functional studies that are likely to involve genome editing to establish the cell type-specific carcinogenic effects of EOC risk variants Cancer Epidemiol Biomarkers Prev; 27(4); 395-404. ©2018 AACRSee all articles in this CEBP Focus section, "Genome-Wide Association Studies in Cancer."

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Published In

Cancer Epidemiol Biomarkers Prev

DOI

EISSN

1538-7755

Publication Date

April 2018

Volume

27

Issue

4

Start / End Page

395 / 404

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Humans
  • History, 21st Century
  • Genotyping Techniques
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Female
  • Epidemiology
 

Citation

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Chicago
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MLA
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Kar, S. P., Berchuck, A., Gayther, S. A., Goode, E. L., Moysich, K. B., Pearce, C. L., … Pharoah, P. D. P. (2018). Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions. Cancer Epidemiol Biomarkers Prev, 27(4), 395–404. https://doi.org/10.1158/1055-9965.EPI-17-0315
Kar, Siddhartha P., Andrew Berchuck, Simon A. Gayther, Ellen L. Goode, Kirsten B. Moysich, Celeste Leigh Pearce, Susan J. Ramus, Joellen M. Schildkraut, Thomas A. Sellers, and Paul D. P. Pharoah. “Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions.Cancer Epidemiol Biomarkers Prev 27, no. 4 (April 2018): 395–404. https://doi.org/10.1158/1055-9965.EPI-17-0315.
Kar SP, Berchuck A, Gayther SA, Goode EL, Moysich KB, Pearce CL, et al. Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions. Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):395–404.
Kar, Siddhartha P., et al. “Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions.Cancer Epidemiol Biomarkers Prev, vol. 27, no. 4, Apr. 2018, pp. 395–404. Pubmed, doi:10.1158/1055-9965.EPI-17-0315.
Kar SP, Berchuck A, Gayther SA, Goode EL, Moysich KB, Pearce CL, Ramus SJ, Schildkraut JM, Sellers TA, Pharoah PDP. Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions. Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):395–404.

Published In

Cancer Epidemiol Biomarkers Prev

DOI

EISSN

1538-7755

Publication Date

April 2018

Volume

27

Issue

4

Start / End Page

395 / 404

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Humans
  • History, 21st Century
  • Genotyping Techniques
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Female
  • Epidemiology