Bethesda, Maryland 20892


Purpose:

RATIONALE: Screening individuals who have a xeroderma pigmentosum gene alteration may help doctors identify persons at risk of developing cancer and identify other cancer genes. PURPOSE: This clinical trial is comparing cancer risk in individuals who have a xeroderma pigmentosum gene alteration to those who don't.


Study summary:

OBJECTIVES: - Compare risk of developing any type of cancer in participants who are heterozygous carriers of xeroderma pigmentosum (XP) disease gene mutations vs non-carrier blood relatives or spouses. - Compare risk of developing skin cancers or cancers of the nervous system in these participants. - Compare cancer risk in different groups among heterozygous carriers of XP disease gene mutations. - Compare cancer risk in carriers of different XP disease gene mutations with heterozygous carriers of these gene mutations. OUTLINE: Participants undergo general cancer screening comprising a medical history and physical examination, including a skin and neurologic examination. Laboratory samples are collected for review. Participants are followed annually by telephone or mail to determine clinical status. PROJECTED ACCRUAL: Approximately 800 participants (400 heterozygous carriers and 400 non-carrier blood relatives or spouses) will be accrued for this study.


Criteria:

DISEASE CHARACTERISTICS: - One of the following: - Blood relative of a patient diagnosed with xeroderma pigmentosum (XP) - Spouse of a blood relative of a patient with XP - Spouse of a patient with XP - Family member of patient with clinical documentation of features of XP and laboratory determination of DNA repair defect - Evaluation of proband at the Warren Grant Magnuson Clinical Center or newly diagnosed on other approved protocols (e.g., NCI-99-C-0099) PATIENT CHARACTERISTICS: Age - Any age Performance status - Not specified Life expectancy - Not specified Hematopoietic - Not specified Hepatic - Not specified Renal - Not specified Other - Able and willing to provide family history information - Able and willing to provide tissue (skin, blood, buccal cells, or hair) for laboratory studies PRIOR CONCURRENT THERAPY: Biologic therapy - Not specified Chemotherapy - Not specified Endocrine therapy - Not specified Radiotherapy - Not specified Surgery - Not specified


NCT ID:

NCT00049621


Primary Contact:

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


Backup Contact:

N/A


Location Contact:

Bethesda, Maryland 20892
United States

Patient Recruitment
Phone: 888-NCI-1937

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: December 17, 2017

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