A study on mutations in Von-Hippel-Lindau (VHL) syndrome families revealed that: What does this mean?• In families that meet clinical criteria for VHL without a detectable VHL pathogenic variant whole genome sequencing may be considered for further analysis To learn more, read the full article at:https://pubmed.ncbi.nlm.nih.gov/33675279/ Reference: Vocke CD, et al. Hum Mutat. 2021; 42(5):520-529. …
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A recent study in carriers with Von-Hippel-Lindau Syndrome, an inherited condition that causes tumors and cysts to grow in certain areas of the body, found:▪️ Nearly 100% of carriers show some signs of this condition by age 65▪️ Demonstrates that this condition is highly penetrant Read the full article to learn more at:https://pubmed.ncbi.nlm.nih.gov/34916234/ Reference: Zhang …
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More than 40% of patients with pheochromocytoma or paraganglioma, regardless of age and family history, carry an inherited gene mutation. Given that gene mutation carriers may benefit from gene-specific cancer screening, all individuals diagnosed with one of these tumors should seek genetic counseling to discuss genetic testing options. Genes that predispose to pheochromocytoma and paraganglioma …
Permanent link to this article: https://inheritedcancer.net/post82520/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Von-Hippel Lindau (VHL) Disease: Among patients with VHL-associated clear cell renal cell carcinoma (RCC), a recent study suggested potential benefit …
Permanent link to this article: https://inheritedcancer.net/9nls2020/
