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Deregulation of the tumour suppressor genes p14 ARF , p15 INK4b , p16 INK4a and p53 in basal cell carcinoma
Author(s) -
Kanellou P.,
Zaravinos A.,
Zioga M.,
Spandidos D.A.
Publication year - 2009
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2009.09079.x
Subject(s) - cdkn2a , loss of heterozygosity , p14arf , locus (genetics) , tumor suppressor gene , exon , biology , basal cell carcinoma , microbiology and biotechnology , cancer research , suppressor , gene , allele , carcinogenesis , pathology , genetics , basal cell , medicine
Summary Background Basal cell carcinoma (BCC) is a locally aggressive slowly growing tumour that rarely metastasizes and is mostly seen in older members of the population. Objectives To determine the involvement of the tumour suppressor genes p14 ARF , p15 INK4b , p16 INK4a and p53 in BCC. Methods We investigated the integrity of the CDKN2A locus in 15 BCC samples by analysing the presence of allelic imbalance/loss of heterozygosity (LOH). Moreover, we studied the mRNA expression levels of the tumour suppressor genes p14 ARF , p15 INK4b , p16 INK4a and p53 in the BCC samples and compared them with mRNA levels in the corresponding normal tissue. The presence of mutations was examined by sequencing for exons 1a and 2 of p16 INK4a . Results We found LOH in one BCC sample for the marker D9S1748. A polymorphism (G442A) of exon 2 was detected in three cases. p14 ARF , p15 INK4b and p53 presented high expression levels, whereas p16 INK4a exhibited low mRNA levels compared with the corresponding normal tissue. Significant correlations were detected among the genes studied. Conclusions Our results demonstrate a different expression profile between p16 INK4a and p14 ARF , p15 INK4b and p53 in BCC. Moreover, we found a low percentage of LOH and of a polymorphic sequence variant (Ala148Thr) for the CDKN2A locus.