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Interpretation 2357
Tier 3
VHL
Variants
VHL codon(s) 430 nonsense
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

The Von Hippel-Lindau (vHL) gene encodes a protein that is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. The VHL gene may be altered as a somatic (acquired) alteration and/or as a germline alteration associated with a rare autosomal dominant inherited cancer syndrome predisposing to a variety of malignant and benign tumors including clear cell renal cell carcinoma (ccRCC). Alterations in VHL have been reported in less than 1% of lung adenocarcinomas. The VHL p.G144* has been reported in multiple renal cell carcinomas as a somatic alteration. According to ClinVar, the VHL p.G144* is also reported as a pathogenic germline variant (https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/). These results should be interpreted in the clinicopathologic context and appropriate germline genetic workup may be considered if clinically indicated.

Citations
  1. Haas NB, et al. Hereditary kidney cancer syndromes. Adv Chronic Kidney Dis 2014;21(1):81-90
  2. The Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014;511:543-550
  3. Razafinjatovo, C. Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. BMC Cancer 2016; 16: 638. doi: 10.1186/s12885-016-2688-0
Last updated: 2019-08-29 17:49:41 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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