Yuya Sekine

Aug 6, 2024 | digitalcommons.library.tmc.edu | Kenji Tamura |Yuki Kanazashi |Chiaki Kawada |Yuya Sekine

AbstractVon Hippel-Lindau (VHL) disease is an autosomal dominant, inherited syndrome with variants in the VHL gene, causing predisposition to multi-organ neoplasms with vessel abnormality. Germline variants in VHL can be detected in 80-90% of patients clinically diagnosed with VHL disease. Here, we summarize the results of genetic tests for 206 Japanese VHL families, and elucidate the molecular mechanisms of VHL disease, especially in variant-negative unsolved cases.