© 1999 by Oxford University Press
Journal of the National Cancer Institute, Vol. 91, No. 1, 12-14,
January 6, 1999
© 1999 Oxford University Press
NEWS |
Tracking von Hippel-Lindau Mutations for Patterns of Disease
An ability to detect specific genetic mutations in virtually 100% of family members with the hereditary disorder known as von Hippel-Lindau syndrome is enabling researchers at the National Cancer Institute to begin matching these defects to the clinical course of their disease. Mutations in the VHL gene, first identified by NCI scientists in 1993, predisposes individuals to benign and malignant tumors in a variety of organs.
And the next step is well under way: detecting which organs will be affected, and which cancers are unlikely to develop at all, in order to speed up diagnosis and to provide early treatment, where appropriate.
"We're beginning to make some predictions, although we'd like to do
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