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Protocol Number:
99-C-0099
- Title:
Examination of Clinical and Laboratory Abnormalities in Patients with Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
- Number:
99-C-0099
- Summary:
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.
- Sponsoring Institute:
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National Cancer Institute (NCI)
- Recruitment Detail
- Type:
Active Accrual Of New Subjects
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Patients with XP, XP/CS, CS, or TTD will be sought by collaborators in Israel.
On referral, patients will be considered for inclusion in the study:
If they have clinical documentation of typical features of XP, XP/CS, CS or TDD or;
If they have laboratory documentation of defective DNA repair, or;
If they have some suggestive clinical features and are willing to participate in the study.
EXCLUSION CRITERIA:
Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
- Special Instructions:
Currently Not Provided
- Keywords:
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Abnormal Hair
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Human Mutations
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Neurologic Degeneration
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Retinopathy
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Skin Cancer
- Recruitment Keywords:
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None
- Conditions:
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Cockayne Syndrome
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Skin Neoplasm
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Xeroderma Pigmentosum
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Contacts:
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CSSC
Clinical Studies Support Center/NCI
164 Rollins Avenue
2nd FLoor
Rockville, MD 20852 Phone: (888) 624-1937 Fax: (301) 881-8239 Electronic Address: ncicssc@mail.nih.gov
- Citations:
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Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells
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Immunological studies in children with xeroderma pigmentosum
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MRI in Cockayne syndrome type I
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Warren Grant Magnuson Clinical Center (CC) National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/15/2004
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