Medpedia

• Head and Neck Cancer
• Intraocular Melanoma
• Melanoma (Skin)
• Non-Melanomatous Skin Cancer
• Precancerous Condition

DISEASE CHARACTERISTICS:
-  Clinical documentation of the typical features of xeroderma pigmentosum (XP),
Cockayne syndrome (CS), the XP/CS complex, or trichothiodystrophy OR
-  Laboratory documentation of defective DNA repair OR
-  Suggestive clinical features of one of these diseases OR
-  First degree family member or relative of affected patient
-  Must be willing or able to provide tissue sample (skin, blood, buccal cells, or hair)
for laboratory studies
PATIENT CHARACTERISTICS:
Age:
-  Any age
Performance status:
-  Not specified
Hematopoietic:
-  Not specified
Hepatic:
-  Not specified
Renal:
-  Not specified
PRIOR CONCURRENT THERAPY:
Biologic therapy
-  Not specified
Chemotherapy
-  Not specified
Endocrine therapy
-  Not specified
Radiotherapy
-  Not specified
Surgery
-  Not specified

OBJECTIVES:

-  Identify patients or confirm suspected cases of xeroderma pigmentosum (XP), Cockayne
syndrome (CS), XP/CS, or trichothiodystrophy (TTD).

-  Document presence or absence of cancers (skin, eye, tongue, or internal) in these
patients.

-  Document atypical features or unusual environmental exposures of these patients.

-  Examine tissue (skin, blood, hair, or buccal swabs) from these patients and their first
degree relatives for DNA repair and genetic analysis.

-  Identify molecular defects in the DNA repair genes in cells from these patients and
correlate the defects with clinical features.

-  Follow the clinical course of selected patients.

OUTLINE: Patients are evaluated initially by phone, followed by a complete history and
physical exam, including appropriate clinical and laboratory tests.

Tissue (skin, blood, buccal swabs, or hair) is obtained for laboratory studies of the
effects of DNA damage, measurement of DNA repair, genetic analysis of DNA, and/or assessment
of immunologic abnormalities.

If malignancies are detected during examinations and tissue collections, patients are
referred for treatment. Genetic counseling is also available.

Patients are followed annually.

PROJECTED ACCRUAL: A total of 500 patients will be accrued for this study.

• : DNA ploidy analysis
• : mutation analysis

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

• Yuzuncu Yil University School of Medicine
  Van, 65200, Turkey
  Recruiting
  Ahmet Metin, MD

  90(432) 216-7325
• Inonu University School of Medicine
  Malatya, Turkey
  Recruiting
  Engin Gozukara, PhD, MD

  90(422) 341-0045
• Sackler Faculty of Medicine
  Tel-Aviv, 69978, Israel
  Recruiting
  Hanoch Slor, MD

  9(723) 545-9657
• Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
  Bethesda, Maryland, 20892-1182, United States
  Recruiting
  Clinical Trials Office - Warren Grant Magnusen Clinical Center

  888

• National Cancer Institute (NCI)
  Lead Sponsor
• Unspecified

• Bohr VA, Sander M, Kraemer KH. Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center. DNA Repair (Amst). 2005 Feb 3;4(2):293-302.
• Terunuma A, Ye J, Emmert S, Khan SG, Kraemer KH, Vogel JC. Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes. Gene Ther. 2004 Dec;11(23):1729-34.
• Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31.
• Robbins JH, Kraemer KH, Merchant SN, Brumback RA. Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case. Clin Neuropathol. 2002 Jan-Feb;21(1):18-23.
• Suzuki H, Kalair W, Shivji GM, Wang B, Toto P, Amerio P, Kraemer KH, Sauder DN. Impaired ultraviolet-B-induced cytokine induction in xeroderma pigmentosum fibroblasts. J Invest Dermatol. 2001 Nov;117(5):1151-5.
• Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis. 2000 Oct;21(10):1821-5.

• Clinical trial summary from the National Cancer Institute's PDQ® database
  http://cancer.gov/clinicaltrials/NCI-99-C-0099