Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00046189
Recruitment Status : Recruiting
First Posted : September 23, 2002
Last Update Posted : July 4, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief 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

Condition or disease
Xeroderma Pigmentosum Basal Cell Carcinoma Squamous Cell Carcinoma Melanoma Skin Cancer

Detailed Description:
Xeroderma Pigmentosum (XP) is a rare, recessive disorder with a more than 1000-fold increase in the frequency of all major skin cancers in association with defective DNA repair. The risk of skin and other cancers among normal appearing XP heterozygote individuals has not been fully studied. We plan to study the family members from XP families with known DNA repair gene mutations to determine if heterozygote carriers of XP disease mutations are at an increased risk of developing cancer. For controls we will compare XP heterozygotes to their non-carrier blood relatives and spouses and to the Surveillance, Epidemiology and End Results (SEER) rates. For this purpose, blood, skin or buccal cells will be obtained from all available relatives for DNA or RNA mutation analysis. Cancer confirmation will be accomplished through review of pathology reports, medical records and death certificates. In addition, willing family members will be clinically examined to determine current cancer status. Individuals who are determined to be heterozygous carriers of XP DNA repair gene disease mutations in these families by mutation analysis or by pedigree will be compared to non-carrier relatives and spouses with respect to history of any type of cancer. We will also focus on skin cancer and cancer of the nervous system since the risks of these cancers are elevated among the XP homozygotes.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Cancer Risk in Xeroderma Pigmentosum Heterozygotes
Actual Study Start Date : April 7, 2003

Patients with XP
Family members from XP families with known DNA repair gene mutations

Primary Outcome Measures :
  1. Determine increased risk of developing cancer [ Time Frame: Annual ]
    risk of any type of cancer, skin cancer and cancers of the nervous system are compared in the relatives who are heterozygotes for the XP mutations and relatives who do not carry the XP mutations by calculating the odds ratios

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   1 Month to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed

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 (excluding neonates), gender or race are eligible for this study.

  • On referral, patients with XP and 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. A spouse of a blood relative of a patient with xeroderma pigmentosum would also be eligible.
  • Ability of patient or Legally Authorized Representative (LAR) to sign a written informed consent document


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00046189

Layout table for location contacts
Contact: Deborah E Tamura, R.N. (240) 760-7355
Contact: Kenneth H Kraemer, M.D. (240) 760-6139

Layout table for location information
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    (888) NCI-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Layout table for investigator information
Principal Investigator: Kenneth H Kraemer, M.D. National Cancer Institute (NCI)
Additional Information:
Layout table for additonal information
Responsible Party: National Cancer Institute (NCI) Identifier: NCT00046189    
Obsolete Identifiers: NCT00049621
Other Study ID Numbers: 020313
First Posted: September 23, 2002    Key Record Dates
Last Update Posted: July 4, 2022
Last Verified: March 22, 2022

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Sun Exposure
Xeroderma Pigmentosum
Skin Cancer
Family History
Natural History
Additional relevant MeSH terms:
Layout table for MeSH terms
Carcinoma, Basal Cell
Skin Neoplasms
Xeroderma Pigmentosum
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms, Basal Cell
Neoplasms by Site
Skin Diseases
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Precancerous Conditions
Skin Diseases, Genetic
Genetic Diseases, Inborn
Photosensitivity Disorders
Pigmentation Disorders
DNA Repair-Deficiency Disorders
Metabolic Diseases