Ontology highlight
ABSTRACT:
SUBMITTER: Naf E
PROVIDER: S-EPMC4698292 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Näf Ernst E Laubscher Dominik D Hopfer Helmut H Streit Markus M Matyas Gabor G
Familial cancer 20160101 1
Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and ...[more]