Bethesda, Maryland 20892

  • Unspecified Childhood Solid Tumor, Protocol Specific


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.


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



Primary Contact:

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

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

Patient Recruitment
Phone: 888-NCI-1937

Site Status: Recruiting

Data Source:

Date Processed: November 27, 2022

Modifications to this listing: Only selected fields are shown, please use the link below to view all information about this clinical trial.

Click to view Full Listing

This study is not currently recruiting Study Participants on The form below is not enabled.