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Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).

Publication ,  Journal Article
Bolton, KL; Ganda, C; Berchuck, A; Pharaoh, PDP; Gayther, SA
Published in: J Intern Med
April 2012

In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. The OCAC was established to facilitate large-scale replication analyses for reported genetic associations for EOC. Since its inception, the OCAC has conducted both candidate gene and genome-wide association studies (GWAS); the latter has identified six established loci for EOC susceptibility, most of which showed stronger association with the serous histological subtype. Future GWAS and sequencing studies are likely to result in the discovery of additional susceptibility loci and may result in established associations with clinical outcome. Additional rare and uncommon ovarian cancer loci will likely be uncovered from high-throughput next-generation sequencing studies. Applying these novel findings to establish improved preventative and clinical intervention strategies will be one of the major challenges of future work.

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Published In

J Intern Med

DOI

EISSN

1365-2796

Publication Date

April 2012

Volume

271

Issue

4

Start / End Page

366 / 378

Location

England

Related Subject Headings

  • Treatment Outcome
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Neoplasms, Glandular and Epithelial
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Forecasting
  • Female
 

Citation

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Bolton, K. L., Ganda, C., Berchuck, A., Pharaoh, P. D. P., & Gayther, S. A. (2012). Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC). J Intern Med, 271(4), 366–378. https://doi.org/10.1111/j.1365-2796.2011.02509.x
Bolton, K. L., C. Ganda, A. Berchuck, P. D. P. Pharaoh, and S. A. Gayther. “Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).J Intern Med 271, no. 4 (April 2012): 366–78. https://doi.org/10.1111/j.1365-2796.2011.02509.x.
Bolton, K. L., et al. “Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).J Intern Med, vol. 271, no. 4, Apr. 2012, pp. 366–78. Pubmed, doi:10.1111/j.1365-2796.2011.02509.x.
Journal cover image

Published In

J Intern Med

DOI

EISSN

1365-2796

Publication Date

April 2012

Volume

271

Issue

4

Start / End Page

366 / 378

Location

England

Related Subject Headings

  • Treatment Outcome
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Neoplasms, Glandular and Epithelial
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Forecasting
  • Female