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GENE.TXT
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1994-05-01
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IMPORTANT NEWS ANNOUNCEMENT
National Kidney Cancer Association
1234 Sherman Avenue
Evanston, Illinois 60202
708-332-1051
Gene for Kidney Cancer Isolated: How You Can Help
A research team headed by scientists at the National Cancer Institute (NCI) has
identified the gene responsible for the most common type of kidney cancer. The
finding is reported in the May 1994 issue of Nature Genetics.
The cancer, called sporadic (non-familial) clear cell carcinoma, accounts for
about 23,500 newly diagnosed cases of kidney cancer each year, or about 85
percent of all cases of the disease. Currently, there are an estimated 75,000
kidney cancer patients in the U.S.
"With identification of this kidney cancer gene, it will be possible to develop
new methods to improve the diagnosis and treatment of the disease and
potentially to find way to prevent it," said W. Marston Linehan, M.D., of NCI's
"The finding also will make it possible to develop a blood or urine test to
detect kidney cancer early when it is most treatable."
When detected in its earliest stages, the five-year relative survival rate for
kidney cancer is 86 percent. If detected after it has spread to distant
organs, the survival rate is 10 to 20 percent at the end of two years. In the
United States, about 8,400 people will die this year of clear cell carcinoma of
the kidney.
The damage or mutated gene responsible for sporadic clear cell carcinoma of the
kidney is a tumor suppressor gene located on the short arm of chromosome 3.
The protein produced by the gene appears to restrain normal growth. The
researchers found that this gene is mutated and inactivated in 57 percent of
tumors from patients with sporadic, non-familial kidney cancer.
"The disease appears to fit the two-hit model for development of cancer, where
both copies of the critical gene are damaged or mutated," said co-investigator
Berton Zbar, M.D., chief of NCI's Laboratory of Immunobiology. There are two
copies of every gene in most cells. One normal copy of a gene is sufficient to
prevent development of cancer. If both copies are damaged or mutated, (the
two-hit model) cancer may develop.
The researchers also found that the kidney cancer gene is affected early in the
development of the disease. This finding is important, Dr. Linehan explained,
because its early presence makes it possible to consider development of
treatments to halt or reverse the progression of disease in its early stages.
The gene responsible for sporadic clear cell carcinoma in the same gene that
was identified last year as the cause of the inherited cancer syndrome called
von Hippel-Lindau (VHL) disease. This research was conducted by Dr. Zbar and
Michael Lerman, M.D., Ph.D., of NCI's Laboratory of Immunobiology, in
collaboration with Dr. Linehan and colleagues. People who have VHL disease are
predisposed to develop multiple tumors, including cancers of the kidney, eye,
brain, spinal cord, and adrenal glands. Isolation of the VHL gene is now
leading to improved identification of carriers of the gene in affected families
to better manage care.
NKCA Involvement
Last fall, after the VHL gene was identified, the National Kidney Cancer
Association asked patients to participate in the NCI's research. All patients
and family members of patients were asked to contact the NKCA if: (a) more
than one person in the family had kidney cancer, including deceased family
members; or (b) if at least one member of the family had kidney cancer and at
least one other family member had contracted or died of tumors of the eye,
brain, spinal cord, ear, or adrenal gland.
Over 20 families contacted the NKCA. Each family was asked to provide some
medical information which the NKCA passed on to Dr. Linehan at the NCI.
Afterwards, he sent the NKCA the following note via electronic mail:
"The family information you sent has been a home run. This morning we already
identified one family with three affected members and another with four."
Marston
Sometimes, a small amount of assistance at a critical time can lead to
important progress in research. Dr. Linehan has again asked the NKCA for
assistance in identifying families with kidney cancer.
Patients Wanted
Kidney cancer patients or family members of patients should call the
Association at 708-332-1051. The NKCA will provide a family medical history
questionnaire and information on participating in the NCI's research. The NKCA
will also provide free information on kidney cancer and the genetics of kidney
cancer to callers.
When the questionnaires are returned to the NKCA, they are screened and sent to
the NCI in batches. This saves the NCI the effort of dealing with individual
callers and NCI scientists are not tied up answering questions about kidney
cancer. Once the questionnaires are received by the NCI, Dr. Linehan will call
those patients and families which seem to be most relevant to the research.
If a detailed study is made of a particular family, it usually sufficient for
every family member to get a simple blood test from his or her local doctor.
The blood is shipped to the appropriate NCI laboratory by the doctor. (Due to
AIDS and other blood transmitted diseases, it is important for all blood
samples to be properly packed and handled.)
Families which have the familial kidney cancer gene should be extra vigilant so
any new cases are diagnosed and treated early. Besides helping themselves,
families which agree to participate in research will be helping scientists
develop diagnostic tests and new treatments for all forms of kidney cancer.
Nurses, Social Workers and Doctors Can Help Too
If you know any kidney cancer patients, call them and give them the National
Kidney Cancer Association phone number, 708-332-1051. Urge them to contact the
NKCA. You'll be performing a valuable service. Supporting research. Helping
patients get more information about their disease. Perhaps even saving a life.