Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum

  • participants needed
  • sponsor
    National Cancer Institute (NCI)
Updated on 19 September 2021
skin lesion
skin cancer


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


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.

Condition Basal cell carcinoma, Carcinoma, melanoma, Squamous cell carcinoma, skin cancer, Precancerous Conditions, Xeroderma Pigmentosum, Metastatic Melanoma, Vulvar Dysplasia and Carcinoma, Advanced Malignancies, Malignant Melanoma, Precancerous condition, basal cell carcinomas, skin cancers, basal cell carcinoma of skin, epidermoid carcinoma, squamous cell cancer
Clinical Study IdentifierNCT00046189
SponsorNational Cancer Institute (NCI)
Last Modified on19 September 2021


Yes No Not Sure

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 (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

Exclusion Criteria

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

How to participate?

Step 1 Connect with a site
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact


Preferred Language
Other Language
Please verify that you are not a bot.

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider


Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 



Reply by • Private

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note