Evidence-Driven Reclassification of VUS: Impact on Genetic Counseling and Surveillance

Lynch syndrome, driven by pathogenic variants in MMR genes like MSH2, significantly increases the risk of colorectal and extracolonic cancers. Variants of uncertain significance (VUS) complicate clinical decision-making, as they are not considered actionable. This case highlights the importance of periodic VUS re-evaluation using updated evidence, such as tumorIHC, functional assays, and familial segregation. This enabled reclassification of a VUS to VUSD with probable damaging effect (VUSD), guiding more personalized risk management and screening strategies.

Author

Ms. Maitri Jain
Consultant Genetic Counsellor, Genetic Care, Gandhinagar, India
Dr. Syeda Zubeda
Medical Geneticist & Senior Genetic Counselor, Strand Life Sciences Level II BGCI-Certified
Dr. Nitin Tolia
Consultant Oncosurgeon, Aishwarya Hospital, Rajkot, India
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