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Pneumothorax and the biology of Birt-Hogg-Dubé syndrome.
Individuals with pneumothoraces are frequently divided into young patients with so-called primary spontaneous pneumothorax and older patients with lung disease causing secondary pneumothoraces. In truth, the younger patients...
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual
The Genetics of Pneumothorax.
Philip M Boone, Rachel M Scott, Stefan J Marciniak, Elizabeth P Henske, Benjamin A Raby
Feb 11, 2019
A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: 1) pneumothorax can cluster in families (i.e., familial spontaneous...
Hereditary renal cell carcinoma syndromes
Eamonn R Maher
Jul 10, 2018
PURPOSE: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to...
Familial syndromic renal cancer Genetics von Hippel–Lindau review Age of Onset Birt-Hogg-Dube Syndrome Carcinoma Renal Cell Disease Management Early Detection of Cancer Fumarate Hydratase Humans Kidney Neoplasms Leiomyomatosis Neoplasms Multiple Primary Neoplastic Syndromes Hereditary Proto-Oncogene Proteins Proto-Oncogene Proteins c-met Skin Neoplasms Succinate Dehydrogenase Tumor Suppressor Proteins Ubiquitin Thiolesterase Uterine Neoplasms Von Hippel-Lindau Tumor Suppressor Protein von Hippel-Lindau Disease
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.
Individuals with Birt-Hogg-Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or renal cell carcinoma (RCC). Currently, all patients with pathogenic FLCN variants are recommended to have renal surveillance. It...