Addressing the Global Burden of Breast Cancers
Breast and ovarian cancers continue to pose serious health challenges worldwide, impacting millions of women each year. As per World Health Organization data (2024), approximately 2.5 million new breast cancer cases and over 700,000 related deaths occur annually, while ovarian cancer accounts for an additional 310,000 new cases globally.
In India, the ICMR–NCRP (2025) reports nearly 232,832 breast cancer and 49,644 ovarian cancer cases each year. Breast cancer is the most frequently diagnosed cancer among Indian women, emphasizing the urgent need for enhanced awareness, early screening, and timely medical intervention.
Around 20–30% of hereditary cancer cases in India are associated with mutations in the BRCA1 and BRCA2 genes. Identifying these mutations early supports individualized risk evaluation, preventive care, and targeted therapeutic decisions—ultimately improving patient prognosis and survival outcomes.
Introducing the UNCODED BRCA1/2 Panel
The UNCODED BRCA1/2 Panel is a powerful NGS-based assay designed to deliver precise and actionable insights for hereditary cancer diagnostics and research. Utilizing advanced bioinformatics, it ensures accurate, consistent, and reproducible variant interpretation while addressing the limitations of traditional methods.
Why Choose UNCODED BRCA1/2 Panel
This high-performance NGS panel is tailored for comprehensive detection of clinically significant BRCA1 and BRCA2 mutations. Its optimized design and analytical workflow provide:
- Actionable Insights: Supports clinicians in assessing risk, planning preventive strategies, and guiding personalized therapy.
- Accurate Variant Detection: Confidently identifies pathogenic and clinically relevant BRCA mutations.
- Scalable Workflow: Efficiently handles multiple samples, suitable for both research studies and clinical applications.
- Clinical Utility: Facilitates genetic counselling and informed decision-making for patients and their families.
With its combination of precision, reliability, and clinical relevance, the UNCODED BRCA1/2 Panel is an ideal choice for laboratories aiming to deliver impactful genomic insights.
Key Features
- Enrichment Method: Employs multiplex PCR to achieve precise and targeted amplification.
- DNA Input Requirement: Requires 10–40 ng of genomic DNA per pool.
- Amplicon Design: Covers over 200 amplicons (average length 148 bp) distributed across 2 primer pools for comprehensive coverage.
- Assay Duration: Total workflow takes approximately 3 hours, including around 75 minutes of hands-on library preparation.
- Coverage Performance: Provides 100% design coverage, ≥95% uniformity, and ≥95% of reads aligned on-target, ensuring reliable variant detection.
- Platform Compatibility: Fully validated for use on all Illumina sequencing systems.
- Data Analysis: Integrated with the SeqSight platform for efficient processing and interpretation of sequencing results.
Unlocking the Power of NGS in Genetic Analysis
Next-Generation Sequencing (NGS) provides a high-throughput, comprehensive approach for analyzing genetic material. It allows simultaneous detection of multiple genetic variants, accelerates research, and delivers precise insights for diverse genomic applications.
Key Advantages:
- Comprehensive Variant Detection: Detects SNVs, INDELs, CNVs, and other complex genomic changes in a single assay.
- High Throughput: Enables parallel processing of multiple samples, reducing turnaround time.
- Scalable and Flexible: Suitable for small research studies as well as large clinical investigations.
- Cost-Effective: Lowers per-sample cost compared to traditional sequencing methods.
- Data-Rich Insights: Supports advanced analyses such as population genomics, pharmacogenomics, and translational research.
- Reliable and Reproducible: Ensures consistent, high-accuracy results for confident decision-making.
Applications
The UNCODED BRCA1/2 Panel equips clinicians and researchers with dependable detection of BRCA1 and BRCA2 variants, establishing it as a trusted solution for hereditary cancer risk assessment and precision oncology worldwide.
Clinical Genomics & Oncology
- Evaluate cancer risk associated with BRCA1/2 mutations in: Breast (female and male), Ovarian, Prostate, Pancreatic, Melanoma, Fanconi Anaemia, Fallopian Tube, and Primary Peritoneal cancers.
- Assist clinicians in preventive care and treatment planning.
- Enable the effective use of PARP inhibitors in BRCA mutation–positive cancers.
- Support early detection and personalized therapies to improve patient outcomes.
- Facilitate familial risk assessment and provide data for genetic counselling.
Precision Medicine & Translational Research
- Study BRCA-related DNA repair defects and associated molecular mechanisms.
- Track mutations and link variants to functional and translational research outcomes.
Pharmacogenomics
- Analyze gene–drug interactions to predict treatment responses.
- Aid in the development of targeted therapies tailored to genetic profiles.
Population & Epidemiological Genomics
- Investigate BRCA mutation frequency across diverse populations.
- Contribute to population-specific variant databases and public health research.
Reproductive & Genetic Counselling
- Support carrier screening and familial risk evaluations.
- Provide comprehensive data for informed genetic counselling and preventive strategies.
By combining advanced genomic analysis with integrated bioinformatics tools such as SeqSight, the UNCODED BRCA1/2 Panel enhances the speed, accuracy, and efficiency of genetic assessment workflows, empowering clinicians and researchers with actionable insights.
