The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review)

  • Authors:
    • Mikael Kronborg Christophersen
    • Claus Høgdall
    • Estrid Høgdall
  • View Affiliations

  • Published online on: September 26, 2019     https://doi.org/10.3892/ijmm.2019.4352
  • Pages: 1599-1608
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Abstract

Ovarian cancer is the most lethal gynaecological malignancy. The cancer initially presents with non‑specific symptoms; thus, it is typically not discovered until the patient has reached the late, considerably more lethal, stages of the disease. Research focus is currently on finding novel biomarkers, especially for early detection and stratification of the disease. One promising approach has been to focus on mutations or variations in the genetic code that are associated with the risk of developing ovarian cancer. A certain heritable component is already known regarding genes such as BRCA1/2, TP53, MSH6, BRIP1 and RAD51C, yet these are estimated to only account for ~3.1% of the total risk. Recent advances in sequencing technologies have enabled the investigation of hundreds of thousands of genetic variants in genome‑wide association studies in tens of thousands of patients, which has led to the discovery of 108 (39 loci with P<5.0x10‑8) novel susceptibility loci for ovarian cancer, presented in this review. Using the published variants in a patient cohort screening, together with variants identified in our ongoing whole exome sequencing project, future aims are to ascertain whether certain of the novel variants could be used as biomarkers for early diagnosis and/or treatment decisions.
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November 2019
Volume 44 Issue 5

Print ISSN: 1107-3756
Online ISSN:1791-244X

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APA
Christophersen, M.K., Høgdall, C., & Høgdall, E. (2019). The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review). International Journal of Molecular Medicine, 44, 1599-1608. https://doi.org/10.3892/ijmm.2019.4352
MLA
Christophersen, M. K., Høgdall, C., Høgdall, E."The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review)". International Journal of Molecular Medicine 44.5 (2019): 1599-1608.
Chicago
Christophersen, M. K., Høgdall, C., Høgdall, E."The prospect of discovering new biomarkers for ovarian cancer based on current knowledge of susceptibility loci and genetic variation (Review)". International Journal of Molecular Medicine 44, no. 5 (2019): 1599-1608. https://doi.org/10.3892/ijmm.2019.4352