Month: August 2016

A new Birt-Hogg-Dubé Syndrome review

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Gupta et al. (2016b) recently published a review about Birt-Hogg-Dubé Syndrome (BHD) exploring the key points and research advances in genetics and pathogenesis, clinical manifestations, diagnosis and disease management. The review introduces BHD and its first descriptions in the 1970s (Hornstein et al., 1975; Birt et al., 1977), then discusses its genetics and pathogenesis with … Read more

Zebrafish model of early stage human ccRCC

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Von Hippel–Lindau (VHL) disease is caused by a germline mutation in the VHL gene that leads to the development of several tumors including clear cell renal cell carcinoma (ccRCC) (Maher and Kaelin, 1997). ‘Clear cell’ tumors are characterized by large, proliferating epithelial cells with clear cytoplasm, and a reduced number of cilia. VHL inactivation leads to the stabilization of … Read more

Simulation study suggests that mutations induce conformational changes in FLCN – possible cause of Birt-Hogg-Dubé syndrome

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Germline mutations of the folliculin gene are normally responsible for Birt–Hogg–Dubé (BHD) syndrome. The 3D structure of the C-terminal domain of folliculin (FLCN), folliculin-CT, has been previously determined (Nookala et al., 2012). FLCN is a tumor suppressor and a guanine nucleotide exchange factor (GEF) for Rab35. GEF activity of FLCN towards its GTPase might be … Read more

Multiple germline mutations in rare inherited cancer syndrome genes

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Inherited cancer predisposition is rare and characterized by large phenotypic variability. This variability can be explained by factors such as allelic heterogeneity, environmental effects or the presence of mutations on two or more inherited cancer genes in the same individual. Considering that inherited mutations are thought to play a role in about 5-10 % of … Read more