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Study of Cancer Susceptibility Among Patients with Inherited Bone Marrow Failure Syndromes

Name of the Trial

Genetic and Etiology Study of Cancer Susceptibility in Patients and Their Families with Fanconi's Anemia or Other Inherited Disorders of the Bone Marrow (NCI-02-C-0052). See the protocol summary .

Principal Investigator

Dr. Blanche Alter of NCI’s Division of Cancer Epidemiology and Genetics.

Dr. Blanch Alter
Dr. Blance Alter
Principal Investigator


Why Is This Trial Important?

Inherited bone marrow failure syndromes (IBMFS) are rare disorders in which the bone marrow fails to adequately produce blood cells. Persons with these syndromes tend to have a very high risk of developing acute leukemia or certain solid tumors, such as head and neck, vulvar, and cervical tumors.

NCI scientists are assembling a study population that includes IBMFS patients and their family members. Researchers want to determine the number of existing cases of cancer in this population, which specific types of cancers are associated with each type of IBMFS, and at what rate IBMFS patients develop cancer. They also hope to identify specific genetic mutations associated with each IBMFS and relate these mutations to cancer risk.

“We hope to help those individuals who have these syndromes by targeting cancer screening/surveillance programs, by avoiding potential carcinogenic exposures such as tobacco, and by avoiding modes of cancer therapy that might be toxic such as radiation and some forms of chemotherapy,” says Dr. Alter.

Who Can Join This Trial?

Researchers seek to enroll up to 1,000 participants (patients and family members) in families with a suspected or proven diagnosis of an IBMFS. See the full list of eligibility criteria for this trial.

Where Is This Trial Taking Place?

This study is taking place at the National Institutes of Health Warren G. Magnuson Clinical Center in Bethesda, Md.

Contact Information

For more information, visit the study’s Web site or call the NCI Clinical Studies Support Center (CSSC) at 1-888-NCI-1937. CSSC provides information about cancer trials taking place on the NIH campus. The call is toll free and confidential.

  • Posted: June 29, 2004