Bethesda, Maryland 20892

  • Precancerous Condition


RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may lead to both earlier detection and prevention of tumors. PURPOSE: Clinical trial to study the genetic and clinical features of patients who have xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum/Cockayne syndrome complex, or trichothiodystrophy.

Study summary:

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.


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

Study is Available At:

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Study Acronym:

Brief Title:

Genetic and Clinical Study of Patients With Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Official Title:

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

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Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

National Cancer Institute (NCI)

Oversight Authority:

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Reasons Why Stopped:

Study Type:


Study Design:


Number of Arms:


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Overall Contact Information

Official Name:Kenneth H. Kraemer, MD
Study Chair
NCI - Dermatology Branch

Study Dates

Start Date:June 2000
Verification Date:June 2009
Last Changed Date:January 27, 2010
First Received Date:December 10, 1999

Study Outcomes

There are no available Study Outcomes

Study Interventions

Intervention Type:Genetic
Name:DNA ploidy analysis
Intervention Type:Genetic
Name:mutation analysis

Study Arms

There are no available Study Arms

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:National Cancer Institute (NCI)

Sample and Retention Information

There are no available Sample and Retention Information

Study References

Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation: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.
Reference Type:Results Reference
Citation:Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis. 2006 Jan;27(1):84-94. Epub 2005 Aug 4.
Reference Type:Results Reference
Citation:Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol. 2005 Feb;52(2):224-32.
Reference Type:Results Reference
Citation:Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet. 2004 Feb 1;13(3):343-52. Epub 2003 Dec 8.
Reference Type:Results Reference
Citation:Khan S, Shahlavi T, Busch DB: Identification of XP-C heterozygotes using real-time quantitative reverse transcriptase-PCR: a novel approach to study the cancer susceptibility in XP-C gene carriers. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0647, 100, 2003.
Reference Type:Results Reference
Citation:Liang C, Price V, Kraemer KH: Tiger tail banding and hair shaft abnormalities in trichothiodystrophy and other hair disorders. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0792, 107, 2003.
Reference Type:Results Reference
Citation:Ueda T, Khan SG, Shahlavi T: Rapid RFLP detection of mutations and functional alterations in the human XPD DNA repair gene. [Abstract] The Fourth Joint Meeting of the European Society for Dermatology Research (ESDR), the Japanese Society for Investigative Dermatology (JSID), and the Society for Investigative Dermatology (SID), 30 April - 4 May, Miami, Florida. A-0644, 100, 2003.
Reference Type:Results Reference
Citation:Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol. 2002 Jun;118(6):972-82. Erratum in: J Invest Dermatol. 2003 Jan;120(1):173.
Reference Type:Results Reference
Citation:Yavuz S, Yavuz AS, Kraemer KH, Lipsky PE. The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. J Immunol. 2002 Oct 1;169(7):3825-30.
Reference Type:Results Reference
Citation:Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet. 2001 Oct 15;10(22):2539-47.
Reference Type:Results Reference
Citation:Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol. 2001 Aug;117(2):197-204.
Reference Type:Results Reference
Citation:Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001;5(6):225-42. Review.
Reference Type:Results Reference
Citation:Zeng X, Winter DB, Kasmer C, Kraemer KH, Lehmann AR, Gearhart PJ. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. Nat Immunol. 2001 Jun;2(6):537-41.
Reference Type:Results Reference
Citation:Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol. 2000 Dec;115(6):974-80.

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Date Processed: February 02, 2023

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