Bethesda, Maryland 20892

  • Precancerous Condition


RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may lead to both earlier detection and prevention of tumors. PURPOSE: Clinical trial to study the genetic and clinical features of patients who have xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum/Cockayne syndrome complex, or trichothiodystrophy.

Study summary:

OBJECTIVES: - Identify patients or confirm suspected cases of xeroderma pigmentosum (XP), Cockayne syndrome (CS), XP/CS, or trichothiodystrophy (TTD). - Document presence or absence of cancers (skin, eye, tongue, or internal) in these patients. - Document atypical features or unusual environmental exposures of these patients. - Examine tissue (skin, blood, hair, or buccal swabs) from these patients and their first degree relatives for DNA repair and genetic analysis. - Identify molecular defects in the DNA repair genes in cells from these patients and correlate the defects with clinical features. - Follow the clinical course of selected patients. OUTLINE: Patients are evaluated initially by phone, followed by a complete history and physical exam, including appropriate clinical and laboratory tests. Tissue (skin, blood, buccal swabs, or hair) is obtained for laboratory studies of the effects of DNA damage, measurement of DNA repair, genetic analysis of DNA, and/or assessment of immunologic abnormalities. If malignancies are detected during examinations and tissue collections, patients are referred for treatment. Genetic counseling is also available. Patients are followed annually. PROJECTED ACCRUAL: A total of 500 patients will be accrued for this study.


DISEASE CHARACTERISTICS: - Clinical documentation of the typical features of xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex, or trichothiodystrophy OR - Laboratory documentation of defective DNA repair OR - Suggestive clinical features of one of these diseases OR - First degree family member or relative of affected patient - Must be willing or able to provide tissue sample (skin, blood, buccal cells, or hair) for laboratory studies PATIENT CHARACTERISTICS: Age: - Any age Performance status: - Not specified Hematopoietic: - Not specified Hepatic: - Not specified Renal: - Not specified PRIOR CONCURRENT THERAPY: Biologic therapy - Not specified Chemotherapy - Not specified Endocrine therapy - Not specified Radiotherapy - Not specified Surgery - Not specified



Primary Contact:

Study Chair
Kenneth H. Kraemer, MD
NCI - Dermatology Branch

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

Clinical Trials Office - Warren Grant Magnusen Clinical Center
Phone: 888-NCI-1937

Site Status: Recruiting

Data Source:

Date Processed: November 27, 2022

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