Dr Aparna Rajadhyaksha, Senior Medical Consultant, Molecular Genomics, Metropolis Healthcare Limited, spoke to The Sunday Guardian on BReast CAncer (BRCA) gene testing.
Q: Can you explain the significance of BRCA testing in assessing the risk of breast and ovarian cancer? How does BRCA testing contribute to the early detection and prevention?
A: BRCA testing is crucial in evaluating the risk of breast and ovarian cancer, especially in populations with a family history of these cancers. Mutations or abnormalities in the BRCA1 and BRCA2 genes significantly increase the likelihood of developing these cancers. In the Indian population, there is a higher prevalence of BRCA1-associated breast cancer (66%) than BRCA2 (45%). Men with a BRCA mutation, especially BRCA2 are also at a higher risk of breast cancer (6-8%). The importance of BRCA testing lies in its ability to identify individuals with these genetic mutations, enabling early intervention and prevention. Those with positive results have a higher risk of developing breast and ovarian cancer at a younger age. The advantages of genetic testing include:
• Individuals with an increased risk can undergo regular and early screenings for both breast and ovarian cancers, enhancing the chances of early detection.
• Depending on the risk level, individuals may consider preventive surgical removal of breasts, ovaries, or both to significantly lower the cancer risk.
• There are medications available that show success in patients with cancer carrying mutations in BRCA1 or BRCA2 genes.
• Prospective parents with a positive BRCA test result may choose options like IVF with preimplantation genetic diagnosis to prevent the inheritance of these genes in their offspring. The knowledge gained from BRCA testing empowers individuals and their families to make informed decisions, leading to more effective prevention and early detection strategies.
Q: In addition to breast and ovarian cancer, what indications can BRCA testing provide for increased risks, such as Fanconi anemia and pancreatic cancer?
A: Beyond breast and ovarian cancer, BRCA testing reveals potential heightened risks for conditions like Pancreatic cancer in the family especially due to BRCA2 gene mutations. Franconia anemia is a rare congenital disorder which is inherited in an autosomal recessive manner where you need two mutations one from each parent in the BRCA2 gene. Symptoms of this disorder include skin findings, developmental delay, and risk for cancer.
Q: To what extent does genetic testing, specifically BRCA testing play a crucial role in guiding an Oncologist’s strategy for personalized cancer care?
A: Genetic testing, like BRCA testing, plays a crucial role in personalized cancer care by providing insights into a patient’s genetic makeup. Oncologists use this information to assess cancer risk, tailor treatment in recent years, the oncological landscape has been transformed by the advent of personalized medicine, emphasizing the identification, and targeting of specific genetic markers for cancer prevention, screening, and therapeutic interventions. At the forefront of this transformation are the mutations in the BRCA1 and BRCA2 genes, which hold significant implications for hereditary breast cancer. These genetic anomalies are responsible for about 30% of inheritable breast cancer cases. For patients who are mutation carriers, the focus is on cancer prevention with screening for early detection for the best outcomes. Current evidence suggests that testing for germline BRCA variants in newly diagnosed patients with BC has the potential to reduce the disease burden through targeted therapies as well as secondary prevention strategies. Patients with widespread cancer benefit from a category of drugs called PARP inhibitors as an effective therapy for patients with a BRCA mutation. With so many advances, an Oncologist can deliver personalized care to their patients with a BRCA mutation with or without cancer. Genetic testing is just the first step.
Q: Are there specific patient populations that you believe should undergo BRCA testing as a routine part of their cancer risk assessment?
A: Routine BRCA testing is recommended for specific patient populations, including those with a family history of breast, ovarian, or related cancers. High-risk ethnic groups, such as the Indian population, should consider testing, especially with a familial cancer history. Men with a family history of breast or ovarian cancer, particularly those with BRCA mutations, should undergo testing due to elevated breast cancer risk. Additionally, individuals diagnosed with one cancer and at risk for a second primary cancer, especially involving breast, ovarian, or related sites, should consider BRCA testing. In conclusion, BRCA testing is integral for personalized cancer risk assessment, guiding early detection and prevention strategies, with genetic counseling playing a vital role in understanding and interpreting results.