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  • Public health justification for BRCA testing during Breast Cancer Awareness Month.
    Posted on October 3rd, 2024 in Exam Details (QP Included)

    Public health justification for BRCA testing during Breast Cancer Awareness Month.

    • Angelina Jolie’s genetic mutation in BRCA1 increased her risk for Hereditary Breast and Ovarian Cancer (HBOC).
    • Early detection methods can potentially lower her cancer risk.
    • Hereditary mutations increase susceptibility to multiple organ cancers.
    • HBOC cancers are relatively rare but develop earlier in life.
    • With one in nine Indians at risk of developing cancer in their lifetime, a large number of individuals will carry hereditary mutations that increase their predisposition to cancer.

    Importance of BRCA Testing

    • Women with BRCA mutations face a 69-72% risk of breast cancer and a 17-44% risk of ovarian cancer by age 80.
    • Preventive interventions like a prophylactic mastectomy can reduce breast cancer incidence by 90-100% and breast cancer-related deaths by 81-100%.
    • Germline BRCA mutations are associated with the risk of seven types of cancer.

    Breast Cancer Incidence in India

    • Breast cancer incidence is on the rise in India, accounting for 27% of all cancer cases.
    • BRCA pathogenic variants cause about 26% of breast cancers and 21-25% of ovarian cancers.
    • BRCA mutations are found in 55% of ovarian cancer cases and 45-65% of hereditary breast cancer cases in populations with a family history of cancer.

    Inequities in BRCA Testing

    • Traditional BRCA testing method misses about half of all actionable cases.
    • Advances in next-generation DNA sequencing, genomics, and bioinformatics make large-scale population testing feasible.
    • Public education on the benefits of hereditary cancer risk and the cost of BRCA testing are critical enablers for this approach.

    Breast Cancer as a Public Health Priority

    • Identifying, preventing, and treating hereditary cancer is crucial for public health.
    • Decisions following a positive BRCA result come with significant financial and emotional costs, making proper genetic counselling essential.

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