Editing Kidney Cancer: Epidemiology and Pathogenesis (section)

== Answers ==

# What proportion of RCCs are familial?
#* ≈4-6%
#What are the clinical manifestations of VHL?
##Hemangioblastoma
##Increased risk of ccRCC
##Paraganglioma
##Pheochromocyoma
##Pancreatic cysts and neuroendocrine tumours
##Ear endolymphatic tumour
##Epididymal cysts
##Ligament, broad tumours
#What gene is mutated and what are the clinical manifestations of HRPCC, HLPCC, Burt-Hogg-Dube, Tuberous Sclerosis Complex?
#*HRPCC: c-met; clinical manifestations: type I papillary RCC
#*HLPCC: fumarate hydratase; clinical manifestations; type II papillary RCC, cutaneous leiyomyoma and uterine leiyomyoma
#*Burt-Hogg-Dube: folliculin; clinical manifestations: pneumothorax, pulmonary cysts, skin fibrofolliculuomas, chromophobe RCC and other renal tumours
#*Tuberous sclerosis complex: TSC1 and TSC2; clinical manifestations: adenoma subaceum, shagreen spots, AMLs, ccRCC, retinal hamartomas, CNS lesions, epilepsy, mental retardation, cardiac lesions, teeth lesions, gum lesions, bone cysts, pulmonary lymphangiomyomatosis
#Explain the pathway of VHL and HIF and role in RCC pathophysiology
#*Under normal conditions, VHL targets hypoxia-induced factor (HIF) for degradation. In the absence of VHL due to mutation, HIF accumulates resulting in increased expression of VEGF, the primary angiogenic growth factor for RCC
#What are the established risk factors for RCC?
## Obesity
## Hypertension
## Smoking
## Acquired cystic disease
## Familial syndrome