Validation structures for sequence variants of uncertain significance in hereditary cancer.

Abstract excerpt

Hereditary cancer syndromes are among the most common inherited disorders and contribute to nearly 10% of solid tumours. While genetic testing is now central to diagnosis, surveillance, and cascade prevention, its impact is constrained by the persistent challenge of variants of uncertain significance (VUS), which comprise almost 40% of reported hereditary cancer syndrome-associated variants in ClinVar. These...

Topics

• Humans
• Genetic Testing
• Neoplastic Syndromes, Hereditary
• Genetic Variation