Genetics of basal cell carcinoma

De Zwaan, Sally E. and Haass, Nikolas K. (2010) Genetics of basal cell carcinoma. Australasian Journal of Dermatology, 51 2: 81-92. doi:10.1111/j.1440-0960.2009.00579.x

Author De Zwaan, Sally E.
Haass, Nikolas K.
Title Genetics of basal cell carcinoma
Journal name Australasian Journal of Dermatology   Check publisher's open access policy
ISSN 0004-8380
Publication date 2010-05-01
Year available 2010
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/j.1440-0960.2009.00579.x
Open Access Status Not yet assessed
Volume 51
Issue 2
Start page 81
End page 92
Total pages 12
Place of publication Richmond, VIC, Australia
Publisher Wiley-Blackwell Publishing
Language eng
Formatted abstract
Basal cell carcinoma is the most common human malignancy in populations of European origin, and Australia has the highest incidence of basal cell carcinoma in the world. Great advances in the understanding of the genetics of this cancer have occurred in recent years. Mutations of the patched 1 gene (PTCH1) lead to basal cell carcinoma predisposition in Gorlin syndrome. PTCH1 is part of the hedgehog signalling pathway, and derangements within this pathway are now known to be important in the carcinogenesis of many different cancers including sporadic basal cell carcinoma. The molecular biology of the hedgehog pathway is discussed, and mouse models of basal cell carcinoma based on this pathway are explored. New developments in non-surgical treatment of basal cell carcinoma are based on this knowledge. Other genes of importance to basal cell carcinoma development include the tumour suppressor gene P53 and the melanocortin-1 receptor gene. In addition, we discuss molecules of possible importance such as the glutathione-S-transferases, DNA repair genes, cyclin-dependent kinase inhibitor 2A, Brahma and connexins. Evidence of familial aggregation of this cancer is explored and supports the possibility of genetic predisposition to this common malignancy.
Keyword Carcinogenesis
Hedgehog pathway
Molecular biology
Non-melanoma skin cancer
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID RG 09-08
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 26 times in Thomson Reuters Web of Science Article | Citations
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Created: Sat, 31 May 2014, 03:54:04 EST by Nikolas Haass on behalf of UQ Diamantina Institute