Protocol Number: 02-C-0313

Title:

Cancer Risk in Xeroderma Pigmentosum Heterozygotes

Number:

02-C-0313

Summary:

This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers, or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, including the skin, eye, nervous system, and bones. Patients have a more than thousand-fold increase in frequency in all major skin cancers.

Parents of patients with XP are carriers of the abnormal XP gene. Other family members may also be carriers of the abnormal XP gene. Carriers do not develop the disease themselves; symptoms develop only in children who have inherited the faulty gene from both parents. This study will try to clarify the genetic basis for XP and to understand the increased frequency of cancer in the disease.

XP patients who have been evaluated at the NIH Clinical Center and their relatives are eligible for this study. Newly diagnosed XP patients are also eligible. Spouses of relatives will also be included as control subjects.

Patients and their family members will undergo some or all of the following procedures:

- Parental permission to review the child's relevant medical records and pathology material from treatments or surgery for cancer or other related illnesses

- Medical history and physical examination, with particular attention to the skin and possible eye, hearing or neurological examinations

- Photographs to document skin and other physical findings

- Nuclear medicine scans to evaluate the brain and nervous system

- X-rays of the skull or other parts of the body

- Nervous system testing with an electroencephalogram (EEG), electroretinogram (ERG), electromyogram (EMG) or nerve conduction velocity measurement

- Collection of blood and skin samples for gene studies

- Establishment of cell lines from collected blood or tissues to study DNA repair, skin cancer, cancers related to XP, immune defects, and related studies.

- Biopsy (surgical removal of a small piece of tissue) of suspicious skin lesions for examination under a microscope

- Collection of a cheek cell sample, obtained by twirling a soft brush against the inside of the cheek

- Collection of a hair sample for microscopic examination and composition analysis

- Surgery to treat skin cancers or other lesions

Sponsoring Institute:

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Members of the XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed under other approved protocols (primarily 99-C-0099) are eligible to participate in this study. Families with XP patients of any age, gender or race are eligible for this study.

On referral, families of XP patients will be considered for inclusion in the study if the proband has clinical documentation of features of XP and laboratory determination of the DNA repair defect. All relatives of XP patients including spouses are eligible to participate.

EXCLUSION CRITERIA:

Inability or unwillingness to provide family history information or tissue (skin, blood, buccal cells or hair) for laboratory studies.

Special Instructions:

Currently Not Provided

Keywords:

DNA Repair

Molecular Epidemiology

Skin Cancer

Genetics

Melanoma

Recruitment Keyword(s):

Xeroderma Pigmentosum

XP

Condition(s):

Xeroderma Pigmentosum

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Cancer Institute

Contact(s):

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
Phone: 1-888-NCI-1937
Fax: Not Listed
Electronic Address: ncicssc@mail.nih.gov

Citation(s):

[No authors listed] Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996. J Clin Oncol. 1996 May;14(5):1730-6; discussion 1737-40.

Chen J, Birkholtz GG, Lindblom P, Rubio C, Lindblom A. The role of ataxia-telangiectasia heterozygotes in familial breast cancer. Cancer Res. 1998 Apr 1;58(7):1376-9.

Cheo DL, Meira LB, Burns DK, Reis AM, Issac T, Friedberg EC. Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors. Cancer Res. 2000 Mar 15;60(6):1580-4.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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