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Microsatellite instability in human non-melanoma and melanoma skin cancer

Quinn, Anthony G., Healy, Eugene, Rehman, Ishtiaq, Sikkink, Stephen and Rees, Jonathan L. (1995) Microsatellite instability in human non-melanoma and melanoma skin cancer Journal of Investigative Dermatology, 104, pp. 309-312. (doi:10.1111/1523-1747.ep12664612). (PMID:7860992).

Record type: Article


Microsatellite instability secondary to replication errors (RER), characterized by length changes at repetitive loci scattered throughout the genome, is a recently recognized genetic mechanism important in the development of some human cancers. Although RER has been reported in sebaceous gland tumors from patients with the Muir-Torre syndrome, the frequency of RER in human non-melanoma and melanoma skin cancers is not known. In this study, we investigated the importance of RER in human skin carcinogenesis. RER was identified in three of four actinic keratoses from a patient belonging to a kindred with documented Muir-Tone syndrome, which indicates that defective DNA replication may contribute to skin cancer development in such patients. Examination of a series of tumors from patients without Muir-Torre, Including 137 skin cancers (47 basal cell carcinomas, 49 squamous cell carcinomas, and 41 primary malignant melanomas), 19 actinic keratoses, and 20 cases of Bowen's disease, using 10 or more microsatellite markers, identified repeat- sequence instability in less than 5% of the tumors studied, In six of the eight tumors, the sole change was an alteration 2 base pairs in length at a single locus, One patient with a squamous cell carcinoma showed changes at multiple loci suggesting defective mismatch repair. Although the low frequency of RER found in this study of a large series of human skin tumors suggests that this phenomenon is uncommon in patients with skin cancer, the identification of RER at multiple loci in two patients suggests that error-prone replication may be important in skin cancer development in some individuals.

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Published date: March 1995
Keywords: genetics, actinic keratosis, replication error
Organisations: Clinical & Experimental Sciences


Local EPrints ID: 334158
ISSN: 0022-202X
PURE UUID: 2f191e26-7c8f-408d-a621-540c8f27f5a7

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Date deposited: 16 Mar 2012 10:10
Last modified: 18 Jul 2017 06:12

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Author: Anthony G. Quinn
Author: Eugene Healy
Author: Ishtiaq Rehman
Author: Stephen Sikkink
Author: Jonathan L. Rees

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