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Redefining Risk, Biomarkers, and Precision Therapy for Hereditary Ovarian Cancer: A Review.

Ambika Nand Jha1, Varsha Ratan Gaikwad2, Ashok Kumar Gupta1

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Understanding hereditary ovarian cancer (HOC) involves genetic susceptibility, particularly BRCA1/BRCA2 mutations. Advances in risk assessment, prevention, and PARP inhibitors offer improved outcomes for this fatal gynecologic malignancy.

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Area of Science:

  • Oncology
  • Genetics
  • Epidemiology

Background:

  • Hereditary ovarian cancer (HOC) is a significant health burden, often diagnosed late.
  • Pathogenic germline mutations in BRCA1 and BRCA2 genes are primary drivers of HOC.
  • These mutations impair DNA repair, leading to genomic instability and increased cancer risk.

Purpose of the Study:

  • To review the evolving landscape of hereditary ovarian cancer.
  • To focus on pharmacoepidemiology, risk assessment, chemoprevention, and targeted therapies.
  • To refine clinical decision-making and advance precision medicine for HOC.

Main Methods:

  • Review of literature on hereditary ovarian cancer.
  • Analysis of risk assessment models (BRCAPRO, BOADICEA).
  • Evaluation of preventive strategies (RRSO, chemoprevention) and targeted therapies (PARP inhibitors).

Main Results:

  • Genetic screening facilitates early detection and prevention of HOC.
  • Risk-reducing salpingo-oophorectomy and chemoprevention reduce OC incidence.
  • PARP inhibitors demonstrate significant improvements in progression-free survival for HOC.

Conclusions:

  • Precision medicine approaches are revolutionizing HOC management.
  • Targeted therapies like PARP inhibitors are crucial for homologous recombination-deficient tumors.
  • Continued research aims to improve patient outcomes in hereditary ovarian cancer.