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.