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Familial Chordoma Study

Name of the Trial

Genetic, Clinical, and Epidemiological Study of Individuals and Families at High Risk of Cancer (NCI-78-C-0039). See the protocol summary.

Principal Investigators

Dr. Margaret Tucker and Dr. Dilys Parry, NCI’s Division of Cancer Epidemiology and Genetics.

Dr. Dilys Parry
Dr. Dilys Parry
Principal Investigator

Why Is This Trial Important?

Chordoma is a rare bone tumor at the base of the skull, in the vertebrae, or in the area of the tailbone. Only about 300 cases are diagnosed in the U.S. each year. While most people with chordoma have no other family members with the disease, rare occurrences of multiple cases within families have been documented. This suggests that some people may be genetically predisposed to develop chordoma. Because genetic or hereditary risk factors for chordoma may exist, scientists are searching for genes involved in the development of this tumor.

NCI is seeking families with two or more relatives with chordoma to participate in this study. Participants will complete a questionnaire, provide a blood sample, and undergo magnetic resonance imaging (MRI) scans.

“By studying these types of families, we’ve already mapped a gene to one chromosome that may be responsible for chordoma,” said Dr. Parry. “Now we want to recruit more families with multiple cases of chordoma so we can narrow the region on the chromosome where this gene is located and determine whether or not other genes may be involved.”

Who Can Join This Trial?

Researchers seek to enroll families that meet one of the following criteria: have at least two blood relatives with a history of chordoma; have one family member with a history of chordoma and at least one blood relative with a history of a childhood brain tumor; or have one family member diagnosed with chordoma at age 20 or younger. See the full list of eligibility criteria for this trial.

Where Is This Trial Taking Place?

The study will be done at the NIH Clinical Center in Bethesda, Md. NIH will pay for travel to and from Bethesda and all study-related medical expenses for any person participating in the study.

Contact Information

Contact Stephanie Steinbart, the chordoma study research nurse, at 1-800-518-8474, or call the NCI Clinical Studies Support Center (CSSC) at 1-888-NCI-1937. The call is toll free and confidential. For additional information, visit the Chordoma Study Web site.

  • Posted: May 11, 2004