Beschreibung:
Some familial cancer syndromes are known to cause renal cell carcinoma (RCC) in afflicted subjects. I studied the role of tumor suppressor genes in two syndromes: Birt-Hogg-Dubé (BHD) and von Hippel-Lindau (VHL). BHD is caused by a germline mutation of the tumor suppressor gene folliculin (FLCN). Patients are at risk of developing RCC throughout their lifetime. In order to functionally classify the FLCN germ line mutations encountered during genetic testing, we established an in vivo assay, based on a mouse xenograft model. In this model, reintroduction of wildtype FLCN into FLCN-/- cells, ...