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Interpretation 2341
Tier 2
VHL
Variants
VHL C162Y
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

The Von Hippel-Lindau (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). The protein encoded by this gene 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 C162Y mutation has not been functionally or clinically validated. However, VHL C162F is known to be oncogenic, and therefore VHL C162Y is considered likely oncogenic. According to ClinVar, VHLC162F is also reported as a pathogenic germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/223225/). These results should be interpreted in the clinicopathologic context and appropriate germline genetic workup may be considered if clinically indicated.

Citations
  1. Hakimi AA, et al. Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol 2013;63(5):848-54
  2. Gossage L, et al. Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. Genes Chromosomes Cancer 2014;53(1):38-51
  3. Randall JM, et al. Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art. Cancer Metastasis Rev 2014;33(4):1109-24
  4. Haas NB, et al. Hereditary kidney cancer syndromes. Adv Chronic Kidney Dis 2014;21(1):81-90
  5. OncoKB. http://oncokb.org/gene/VHL/C162Y
  6. ClinVar. https://preview.ncbi.nlm.nih.gov/clinvar/variation/223225/
Last updated: 2019-03-11 16:31:43 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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