In India, breast cancer is the leading cause of cancer-related deaths among women, with an alarming rise in cases over the past two decades. Understanding the genetic factors influencing breast cancer is crucial for early diagnosis and effective treatment. Recent findings from a study conducted at a diagnostic lab in India shed light on the prevalence of BRCA gene mutations in Indian breast cancer patients.
The BRCA1 and BRCA2 genes are known to significantly increase the risk of breast cancer when mutated. In this study, BRCA gene mutations were detected in 29.1% of the 395 patients tested between 2021 and 2023. This is a much higher prevalence rate compared to Western populations, where the mutation rate is typically around 5-10%. These findings emphasize the urgent need for population-specific genetic testing protocols in India to help address this increasing cancer burden.
Key findings from the study include:
- BRCA1 mutations were more common, accounting for 68.7% of all detected mutations. The most frequently mutated exon in BRCA1 was exon 10, with the c.1961delA variant being the most common. This variant is often associated with aggressive breast cancer phenotypes, making early detection crucial for optimal treatment outcomes.
- BRCA2 mutations were also prevalent, particularly in exon 11, with the c.6373delA variant being the most recurrent. While BRCA2 mutations are generally less frequent than BRCA1, they still pose significant risk and require targeted therapeutic approaches.
- Younger women (aged 20-45) showed a significantly higher correlation with BRCA-positive status, reinforcing the need for genetic screening in younger breast cancer patients, even in the absence of a family history of the disease. This age group often experiences more aggressive forms of cancer, and identifying BRCA mutations early can offer better survival outcomes through tailored treatments.
The results of this study highlight the critical importance of BRCA screening in Indian women, particularly those under 50 years of age. Early detection of BRCA mutations can help guide treatment decisions, including the use of PARP inhibitors, which are particularly effective in BRCA-mutated cancers. Additionally, genetic counseling for families of BRCA-positive patients can play a crucial role in preventive healthcare, allowing at-risk relatives to undergo genetic testing and consider risk-reducing measures.
As breast cancer continues to rise in India, a multidisciplinary approach that includes genetic testing, public awareness, and preventive strategies is crucial for reducing the mortality rate associated with this disease. Increased access to genetic testing and counseling will empower patients and their families to make informed decisions about treatment and prevention.
Conclusion
This study’s findings underscore the need for widespread BRCA genetic testing in India, especially among younger women. The higher prevalence of BRCA mutations in the Indian population calls for a tailored approach to cancer screening and treatment. Routine BRCA testing, combined with effective genetic counseling, can lead to earlier detection, personalized treatment options, and potentially better survival rates for breast cancer patients.
The integration of genetic screening into standard breast cancer care in India can significantly reduce mortality by facilitating early intervention and informing preventive strategies for at-risk family members. As breast cancer continues to be a major public health concern, leveraging insights from studies like this can pave the way for improved cancer care across the country.
Read the full paper here (https://jmhg.springeropen.com/articles/10.1186/s43042-024-00567-6), and explore more of the authors’ work and contributions in genetic research.
References:
Chikkala, R., Bhayal, D., Rani, N., Modali, R., Bhatia, K., & Dubey, B. (2024). Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab. Egyptian Journal of Medical Human Genetics, 25:101.