Article
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
BMC medical genetics - 12 May 2017
Bartram Malte P, Mishra Tripti, Reintjes Nadine, Fabretti Francesca, Gharbi Hakam, Adam Alexander C, Göbel Heike, Franke Mareike, Schermer Bernhard, Haneder Stefan, Benzing Thomas, Beck Bodo B, Müller Roman-Ulrich
Abstract excerpt
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin...
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