AB175. The first large-scale study of VHL gene mutation spectrum and genotype-phenotype correlationship of VHL disease in China

摘要

ObjectiveVHL disease is the most common hereditary renal cancer, and it is an autosomal-dominant inherited familial cancer syndrome caused by germline mutations of the VHL tumor suppressor gene. The golden standard for diagnosing VHL disease is to find the VHL gene mutation in patients’ genes. In the world, the United States had summarized 469 VHL families from the United States, Europe and Japan to summarize VHL gene mutation spectrum and the genotype-phenotype correlationship. However, no such large number of samples’ analysis had been done in China. The purpose of this study is to finish the first large-scale study of VHL gene mutation spectrum and genotype-phenotype correlationship of VHL disease in China.