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Preventing ovarian cancer through genetic testing: a population-based study.

A Finch1, S Bacopulos, B Rosen

  • 1Women's College Research Institute, University of Toronto, Toronto, ON, Canada.

Clinical Genetics
|November 9, 2013
PubMed
Summary

Genetic testing for BRCA1 and BRCA2 mutations, combined with preventive surgery, could prevent ovarian cancer. Applying universal genetic testing criteria in Ontario might have prevented 3.6% of invasive ovarian cancers in the study population.

Keywords:
BRCA1BRCA2ovarian cancerpersonalized medicine

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Area of Science:

  • Oncology
  • Genetics
  • Preventive Medicine

Background:

  • Personalized medicine approaches, including genetic testing for BRCA1 and BRCA2 mutations and prophylactic salpingo-oophorectomy, are strategies to reduce invasive ovarian cancer incidence.
  • Population-level utility of these strategies requires evaluation within specific healthcare systems.

Purpose of the Study:

  • To evaluate the potential population-level utility of genetic testing for BRCA1/BRCA2 mutations and subsequent preventive surgery for ovarian cancer in Ontario.
  • To determine the proportion of ovarian cancers that might have been prevented by applying existing genetic testing eligibility criteria universally.

Main Methods:

  • Review of pedigree information and genetic test results from 1342 unselected ovarian cancer patients in Ontario.
  • Identification of patients with BRCA1 or BRCA2 mutations.
  • Assessment of eligibility for genetic testing based on provincial criteria prior to cancer diagnosis.

Main Results:

  • A total of 176 out of 1342 patients (13.1%) carried a BRCA1 or BRCA2 mutation.
  • Of those with mutations, 48 women (3.6% of all patients) met the eligibility criteria for genetic testing before developing cancer.
  • This suggests a potential for prevention if testing criteria were applied more broadly.

Conclusions:

  • Targeted genetic testing for BRCA1/BRCA2 mutations and preventive interventions hold potential for reducing ovarian cancer burden.
  • Universal application of current genetic testing eligibility criteria to all women at risk in Ontario could have prevented a notable proportion of invasive ovarian cancers.
  • Further research into optimizing screening and prevention strategies for hereditary ovarian cancer is warranted.