Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

 Understanding Reduced Penetrance in High-Risk Cancer Genes: A Guide for Genetic Clinicians

Genetic testing plays a crucial role in identifying cancer susceptibility, but not all gene mutations lead to disease. The Cancer Variant Interpretation Group-UK (CanVIG-UK) has developed a framework to classify variants of reduced penetrance in high-risk cancer genes, helping clinicians make more informed decisions.

🔬 What is Reduced Penetrance?

Penetrance refers to the likelihood that a person carrying a pathogenic variant will develop the associated disease. Some genetic mutations in BRCA1, BRCA2, TP53, and other cancer susceptibility genes show reduced penetrance, meaning not all carriers will develop cancer.

🏥 Impact on Clinical Practice

For genetics clinicians and clinical scientists, this classification framework:
✔️ Helps refine cancer risk predictions
✔️ Supports genetic counseling and patient management
✔️ Aids in tailoring surveillance and prevention strategies

📌 Why It Matters

Accurate classification of these variants ensures that patients receive appropriate guidance, reducing unnecessary anxiety or medical interventions. The CanVIG-UK approach enhances personalized medicine, improving cancer risk assessments for individuals and families..

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