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Risk assessment & genetic testing.

Pierre O Chappuis1, William D Foulkes

  • 1Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada.

Cancer Treatment and Research
|January 5, 2002
PubMed
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Family history is a major ovarian cancer risk factor, with 5-13% of cases linked to inherited genes. Identifying these genes enables targeted early detection and prevention for high-risk women.

Area of Science:

  • Oncology
  • Genetics
  • Epidemiology

Background:

  • Ovarian cancer is a leading cause of cancer death in women in Western countries.
  • A strong family history is a significant risk factor for ovarian cancer.
  • Inherited cancer predisposition genes account for 5-13% of all ovarian cancer cases.

Purpose of the Study:

  • To define hereditary ovarian cancer syndromes based on familial and epidemiological data.
  • To highlight the impact of identifying genes responsible for hereditary ovarian cancer.
  • To emphasize the role of predictive oncology in managing genetic risk.

Main Methods:

  • Analysis of familial ovarian cancer pedigrees.
  • Review of epidemiological studies on hereditary ovarian cancer.

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  • Identification of genes associated with hereditary ovarian cancer syndromes.

    • Main Results:

    • Three distinct hereditary ovarian cancer syndromes have been defined.
    • Gene identification has advanced understanding of inherited ovarian cancer.
    • This knowledge facilitates the development of targeted preventive strategies.

    Conclusions:

    • Identification of ovarian cancer predisposing genes opens new avenues for early detection.
    • Preventive procedures can be specifically tailored for women with identified genetic risks.
    • Predictive oncology requires specialized units aware of genetic testing implications.