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Risk score · Cancer

Ovarian Cancer Polygenic Risk Score

Epithelial ovarian cancer is the most common form of ovarian cancer. Rare variants such as BRCA1 and BRCA2 carry most inherited risk; this score captures the common ones.

A risk score adds up many common variants, each with a small effect, into an estimate of genetic predisposition. It is not a diagnosis.

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A polygenic score for Invasive epithelial ovarian cancer

Genetic variants

30

Method

Genome-wide significant variants

Built from studies of

European 100%

Evaluated in

European 100%

Published

Barnes DR et al. (2020). Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med.

The score in the PGS Catalog →

References

  1. Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, 2016. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov
  2. Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, 2017. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet

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