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Investigation of Genetic and Translational Effects of Tumor Suppressor Proteins in Two Hereditary Forms of Renal Cell Carcinoma

Katja Nina Maria Dinkelborg

出版	Georg-August-Universität Göttingen, 2021
URL	http://books.google.com.hk/books?id=q3ty0AEACAAJ&hl=&source=gbs_api

註釋

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, ...