Hereditary Cancer Panel Testing
Hereditary cancer predisposition syndromes account for approximately 5-10% of all diagnosed cancer cases6. Multi-gene panel testing using Next Generation Sequencing (NGS) technology has become widely used in clinical practice for identifying individuals with cancer-predisposing genetic variants1.
Key Benefits and Features
- Increased Detection Rate: Multi-gene panel testing significantly improves the detection of pathogenic mutations compared to traditional single-gene testing
- Cost and Time Efficiency: Panel testing is more cost-effective and time-efficient than sequential single-gene testing.
- Comprehensive Coverage: Modern panels can analyze 25 to 190 genes associated with hereditary cancers.
Detection Rates and Clinical Impact
- Overall Detection Rate: Studies show pathogenic variant detection rates of:
- 8-22.1% for pathogenic/likely pathogenic variants
- 34.8% for variants of uncertain significance (VUS)
- Cancer-Specific Detection: Detection rates vary by cancer type:
- Breast cancer: 17.5%
- Colorectal cancer: 15.3%
- Ovarian cancer: 24.2%
- Pancreatic cancer: 19.4%
- Prostate cancer: 15.9%
Common Cancer Types Covered
Hereditary cancer panels typically test for genes associated with:
- Breast and ovarian cancer
- Colorectal cancer
- Pancreatic cancer
- Endometrial cancer
- Gastric cancer
- Melanoma
- Prostate cancer
Clinical Implementation
Testing Criteria:
- Personal or family history of cancer
- Early onset of cancer
- Multiple primary cancers
- Specific tumor characteristics1
Results Interpretation:
- Pathogenic/likely pathogenic variants require clinical management changes
- VUS requires ongoing monitoring and potential reclassification
- Negative results may still warrant family history-based screening
Future Implications
The field continues to evolve with:
- Expanding gene panels
- Improved variant classification
- Better understanding of gene-cancer associations
- Integration with targeted therapies
This comprehensive approach to genetic testing has revolutionized cancer risk assessment and management, allowing for more personalized prevention and treatment strategies.