Journal Article

Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts

Eszter Rockenbauer, Mette H. Bendixen, Zuzanna Bukowy, Jiaoyang Yin, Nicklas R. Jacobsen, Mohammad Hedayati, Ulla Vogel, Lawrence Grossman, Lars Bolund and Bjørn A. Nexø

in Carcinogenesis

Volume 23, issue 7, pages 1149-1153
Published in print July 2002 | ISSN: 0143-3334
Published online July 2002 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/23.7.1149
Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts

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We have previously used single nucleotide polymorphisms to detect an association of basal cell carcinoma (BCC) in Caucasian Americans and Danes with the genome region 19q13.2-3, which contains several genes involved in the nucleotide excision repair of DNA. In this exploratory paper we have extended the data and used them in a chromosomal scan. The results indicate the presence of a gene variation modulating the risk of developing BSS in a submegabase region including and surrounding the gene RAI. Specifically, persons that are homozygous for the haplotype RAI intron 1A RAI exon 6A appear at increased risk for BCC. In addition, we have looked for possible synergisms between all pairs of markers. We find that a marker in GLTSCR1, presumably separated from RAI by several million bases, supplements the most significant marker in RAI in separating cases from controls, which may suggest the presence of an independent, risk-modulating variation in this second gene region.

Keywords: BCC, basal cell carcinoma; SNP, single nucleotide

Journal Article.  3941 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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