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. 2011:2011:217378.
doi: 10.1155/2011/217378. Epub 2010 Sep 28.

Basal cell carcinomas in gorlin syndrome: a review of 202 patients

Elizabeth A Jones  1 , Mohammed Imran Sajid, Andrew Shenton, D Gareth Evans
Affiliations

Basal cell carcinomas in gorlin syndrome: a review of 202 patients

Elizabeth A Jones et al. J Skin Cancer. 2011.

Abstract

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

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Figures

Figure 1
Figure 1
Cumulative onset of BCC by gender. Male(m) n = 100. Female (f) n = 102.
Figure 2
Figure 2
Cumulative onset of BCC by presence of PTCH mutation. Mutation found (y) n = 94. Not found (n) n = 64. Untested (u) n = 42.
Figure 3
Figure 3
Cumulative onset of BCCs by type of PTCH mutation. Missense (mis) n = 26. Splicing (spl) n = 15. Truncating (tru) n = 38.
Figure 4
Figure 4
Effect of mutation position on onset of BCCs.
See this image and copyright information in PMC

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