PMID: 9541654Apr 29, 1998Paper

The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome

Mutation Research
E Shafei-BenaissaJ L Huret

Abstract

The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant cancer prone disease (at risk of multiple basal cell carcinomas, and other malignant or benign proliferations). We have previously reported data from peripheral blood lymphocytes of patients with this condition, showing a significant level of spontaneous chromatid and chromosome rearrangements and an overall lengthening of the cell cycle. In this paper, we confirm this disease to be a chromosome instability syndrome from studies on fibroblasts of 5 patients. Spontaneous chromosomal rearrangements, an increased frequency of sister chromatid exchanges and a slowing of the cell cycle were found, compared to age-matched control material. There was also an increased sensitivity to aberration production by mechlorethamine in patient fibroblasts. The chromosome instability we found was not restricted to a given cell lineage, but appears to be part of the general condition of this syndrome. The recently discovered gene responsible for Gorlin syndrome, PTC (or PTCH), encodes a transmembrane protein with yet poorly known functions. However, the demonstration of Gorlin syndrome as a chromosome instability syndrome suggests that this protein has a...Continue Reading

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Citations

May 31, 2001·Ophthalmology·S G HonavarE Z Mahmood
Oct 3, 2007·The Journal of Laryngology and Otology·L BarkerR Sudderick
May 4, 2005·Environmental Health Perspectives·Pavel RossnerRadim J Srám
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Feb 19, 2016·Craniomaxillofacial Trauma & Reconstruction·Thiago de Santana SantosJosé Rodrigues Laureano Filho
Jan 29, 2011·Journal of Biomedicine & Biotechnology·Krystle L Mohawk, Alison D O'Brien

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