Dr. Berton Zbar and his colleagues at the Frederick Cancer Research Laboratories, National Cancer Institute, are making excellent progress in their mapping of the VHL gene.¹

They are identifying and studying in detail the particular mutation patterns along the gene which occur in individual families. They are hoping to be able to predict, based on this DNA information, which VHL manifestations may occur in an individual.

Now that the VHL gene has been identified, Dr. Zbar and others are working to map the full gene, reproduce in the lab the protein which this gene normally encodes, understand how the VHL gene mutations modify this protein, and what can be done to help.

Those families who have contributed blood and tissue samples to Dr. Zbar's research may be able to benefit now from what has been learned so far. Once they have identified the particular mutation area in your family's DNA, anyone in the family can be tested for VHL. With this information, the testing lab can go directly to this area of the gene and examine it, making it much easier and more cost-effective to do an accurate test for the gene.

"This information should be kept with the family Bible," says Dr. Zbar. "It can be used by everyone in the family to do the most efficient test for VHL."

The Frederick lab is not accepting new samples for their research. This offer is only available to those families whose samples are already on file. Write to:

Dr. Berton Zbar
Frederick Cancer Research Institute
Building 560, Room 12-71
Frederick, MD 21702

Testing markers for these mutation areas are made available to DNA testing laboratories, where new blood samples can be examined. Families for whom the direct tests do not yet work can still use the Linkage Analysis method,² which requires samples from two clinically diagnosed family members.

Editor's update, March 2000: DNA testing is now available to everyone, even people with no family history of VHL. For a current explanation of DNA testing, how it works, and where to obtain services, see About DNA Testing for VHL.

1. See VHLFF 1:2, June 1993.

2. See VHLFF 1:1, March 1993.

They Found It!

-- Joyce G., Massachusetts

A year ago I shared with you that we had submitted my son's blood sample for DNA testing. He has VHL, his father died in 1977, and he has no living relatives with a clinical diagnosis of VHL.

The first answer was negative. Clinically we know he has VHL, but they couldn't see it in his DNA. We asked that they keep the sample on file and try again when new markers became available. It took a year, but they did find the mutation area!

What this means to us is that his father's sister can now be tested. After thirty years of wondering and being watchful, she can finally get a definitive answer whether or not she carries the faulty gene. With a "no" answer, she will finally know for sure that her daughters and grandchildren are not at risk for VHL.

Other family members whose mysterious symptoms might or might not be VHL can also be tested and get a definite answer. There are concerns about misuse of this information by insurance carriers.¹ But for us, what a relief after all these years of worry!

As published in the VHL Family Forum 2:1, March 1994. For permission to reprint, please contact the VHL Family Alliance at editor@vhl.org. Further information is available from the VHL Family Alliance at info@vhl.org.

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