Searching for the hereditary causes of renal-cell carcinoma

@article{Pavlovich2004SearchingFT,
  title={Searching for the hereditary causes of renal-cell carcinoma},
  author={Christian P. Pavlovich and Laura S. Schmidt},
  journal={Nature Reviews Cancer},
  year={2004},
  volume={4},
  pages={381-393}
}
Families with hereditary predispositions to cancer continue to provide a unique opportunity for the identification and characterization of genes involved in carcinogenesis. A surprising number of genetic syndromes predispose to the development of renal-cell carcinoma, and already genes associated with five of these syndromes have been identified — VHL, MET, FH, BHD and HRPT2. These very different genes and the biochemical pathways in which they participate raise interesting questions about the… 
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The genetic basis of these different types of kidney cancer to provide better methods for early diagnosis of this disease as well as provide the foundation for the development of molecular therapeutic approaches is identified.
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The genetic heterogeneity of uterine leiomyomata.
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While many FRCC syndromes confer a risk of renal cell carcinoma and of extrarenal manifestations, not all patients with FRCC mutations develop renal neoplasia, and theextrarenal syndromic manifestations may present quite variably even among individuals within the same affected family.
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Details are described in the diagnostic criteria for and management of familial kidney cancer syndromes, including those related to germline pathogenic variants in VHL, BAP1, MITF, MET, FH, TSC1/TSC2, FLCN, SDH, and CDC73.
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