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Studying Dyskeratosis Congenita

Name of the Study

Genetic and Etiology Study of Cancer Susceptibility in Patients and Their Families With Inherited Disorders of the Bone Marrow (NCI-02-C-0052). See the protocol summary.

Principal Investigators

Dr. Sharon A. Savage and Dr. Blanche Alter, NCI Division of Cancer Epidemiology and Genetics.

Dr. Sharon A. Savage
Dr. Sharon A. Savage
Principal Investigator

Why This Study Is Important

Dyskeratosis congenita (DC) is a rare disorder characterized by abnormal skin pigmentation around the neck and chest, abnormal fingernails and toenails, and oral leukoplakia (white spots on the mucous membranes of the mouth). Persons with DC tend to have a high risk of developing bone marrow failure, leukemia, or carcinomas, especially of the head and neck. DC belongs to a family of disorders called inherited bone marrow failure syndromes (IBMFS).

Many patients with DC have mutations in genes that are important in the biology of telomeres, which are complex structures that stabilize the ends of chromosomes. These genes are also important in cancer susceptibility. NCI is undertaking an intensive assessment of families with DC, within the setting of its study of IBMFS, to learn more about how genes associated with telomeres contribute to cancer development and to identify new susceptibility genes for DC.

Individuals enrolled in this study may be seen and evaluated at the NIH Clinical Center (costs covered by NIH) or they may participate by providing information from their home communities. All affected individuals and their family members will complete family history and personal medical history questionnaires. They may also be asked to provide a sample of blood and/or buccal (mouth) cells for genetic testing.

Who Can Join This Study

Researchers seek to enroll patients and family members in families with a suspected or proven diagnosis of DC. See the eligibility criteria for the IBMFS study.

Study Site and Contact Information

This study is taking place at the NIH Clinical Center in Bethesda, Md., but eligible families do not need to come to NIH in order to participate. For more information, visit the study's Web site or call the IBMFS study referral nurse at 1-800-518-8474. The toll-free call is confidential.

  • Posted: July 11, 2006