Compendium of Cancer Genome Aberrations

GTS5:Hereditary papillary renal carcinoma (MET): Difference between revisions

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{| class="wikitable sortable"
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!Gene!!Genetic Variant or Variant Type!!Molecular Pathogenesis!!Inheritance, Penetrance, Expressivity
!Gene
! !!Genetic Variant or Variant Type!!Molecular Pathogenesis!!Inheritance, Penetrance, Expressivity
!Notes
!Notes
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|<span class="blue-text">EXAMPLE:</span> ''BRCA1''||<span class="blue-text">EXAMPLE:</span> Many||<span class="blue-text">EXAMPLE:</span> Multiple variant types leading to loss of function||<span class="blue-text">EXAMPLE:</span> Autosomal recessive,  
|''MET''
~30% penetrant for carriers
| ||Missense||The tumorigenic hallmark of HPRCC is ''MET'' germline proto-oncogene mutations, which are often missense, leading to activation of the tyrosine kinase domain of c-MET sans endogenous HGF/SF. The activation subsequently triggers downstream signaling pathways that promote cell survival, proliferation, angiogenesis and inhibition of apoptosis.||Dominant,
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HPRC is highly penetrant (approaching 100%)
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|<span class="blue-text">EXAMPLE:</span> Gene X
|<span class="blue-text">EXAMPLE:</span> List the specific mutation
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[[Category:GTS5]]
[[Category:GTS5]]
[[Category:DISEASE]]
[[Category:DISEASE]]
<references />
Retrieved from "https://test.ccga.io/index.php/GTS5:Hereditary_papillary_renal_carcinoma_(MET)"