Publications by authors named "Kristin K Choo"
Article Synopsis
- The study aimed to identify the clinical features and genetic basis of a familial cancer syndrome linked to lipomas, fibrofolliculomas, and kidney cancer in affected patients.
- Genomic analysis revealed a pathogenic variant in the PRDM10 gene, which is associated with a severe form of bilateral, multifocal papillary renal cell carcinoma and affects the expression of other related genes.
- The findings suggest those with specific skin manifestations and subcutaneous lipomas should be tested for PRDM10 variants, and kidney tumors in these individuals should be treated with surgical removal rather than merely monitored.
