Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

ABSTRACT:

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 tumors.

Methods

Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma. Furthermore, both tumor DNA and DNA from a metastasis are analyzed regarding this mutation. The pathogenic effect of the sequence alteration is confirmed by minigene assays and the biochemical consequences on

SUBMITTER: Bartram MP 

PROVIDER: S-EPMC5429543 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature