Journal Article

Nucleotide excision repair gene <i>XPD</i> polymorphisms and genetic predisposition to melanoma

Daniela Tomescu, Gina Kavanagh, Tom Ha, Harry Campbell and David W. Melton

in Carcinogenesis

Volume 22, issue 3, pages 403-408
Published in print March 2001 | ISSN: 0143-3334
Published online March 2001 | e-ISSN: 1460-2180 | DOI:
Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma

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The nucleotide excision repair pathway has evolved to deal with UV light-induced DNA damage. Individuals with the rare inherited nucleotide excision repair deficiency disease xeroderma pigmentosum have a 1000-fold increased incidence of skin cancer. We are interested in the possibility that more subtle changes in nucleotide excision repair genes, resulting in either a reduced capacity for repair or in altered interactions between repair proteins and components of the cell cycle control machinery, might constitute important genetic risk factors for the development of skin cancer in the general population. To investigate this hypothesis we have compared the frequency of polymorphisms in exons 6, 22 and 23 of the XPD gene in melanoma patients and a control group. For each of these two allele polymorphisms one of the alleles was over-represented in the melanoma group and there was a significant association with melanoma. Importantly, this association did not extend to markers immediately flanking the XPD gene, thus providing evidence that XPD gene polymorphisms might predispose to melanoma in the general population. There is a report that one of the polymorphic XPD alleles (exon 23 Lys), which is over-represented in the melanoma group, has reduced repair proficiency and we discuss the possibility that this is the causal change to the XPD gene that predisposes to melanoma.

Keywords: BCC, basal cell carcinoma; CI, confidence interval; CKM, muscle creatine kinase; NER, nucleotide excision repair; OR, odds ratio; RFLP, restriction fragment length polymorphism; SCCHN, squamous cell carcinoma of the head and neck; SSCP, single-stranded conformational polymorphism; XP, xeroderma pigmentosum.

Journal Article.  4666 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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