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- W4232212239 abstract "Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis." @default.
- W4232212239 created "2022-05-12" @default.
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- W4232212239 date "2017-11-01" @default.
- W4232212239 modified "2023-09-27" @default.
- W4232212239 title "Genetics and molecular biology of renal cancer" @default.
- W4232212239 doi "https://doi.org/10.1093/med/9780199659579.003.0084" @default.
- W4232212239 hasPublicationYear "2017" @default.
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