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Molecular-genetic analysis of NBCCS region in patients with basocellular carcinoma and NBCCS

The PTCH gene, a human homologue of the Drosophila segment polarity gene patched, is a tumor suppressor for Nevoid Basal cell Carcinoma Syndrome (NBCCS) and for sporadic Basocellular Carcinomas of the skin (BCCs). The aim is delineation of the biochemical pathway in which PTCH functions may lead to rational medical therapy for BCCs and possiblyy for other tumors associated with NBCCS. Tumor and blood samples were obtained from skin cancer patients and their family members. We collected NBCCS families, sporadic cases and BCC patients. PCR analysis was performed wwith polymorphic markers of NBCCS region. Allelic loss was scored when DNA from blood was heterozygous and one of the bands in tumor was absent or markedly reduced in intensity. In a clinically diverse series of 10 informative tumors, majority showedLOH for chromosome 9q22.3 markers, mostly D9S287. In cases where LOH for polymorphic markers was not detected it is necessary to search for mutations on PTCH.Inactivation of the gene on chromosome 9q22.3 may be necessary event for basocellular carcinoma. So far different germline mutations along the NBCCS region have been found in DNA samples from NBCCS individuals, but no significant correlation between mutation type and phenotype has been detected.

NBCCS region; PTCH gene; LOH analysis; tumor suppressor

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