Mae R. Gailani

TL;DR: It is proposed that a reduction in expression of the patched gene can lead to the developmental abnormalities observed in the syndrome and that complete loss of patched function contributes to transformation of certain cell types.

TL;DR: Northern blots and RNA in situ hybridization showed that patched is expressed at high levels in tumour cells but not normal skin suggesting that mutational inactivation of the gene leads to overexpression of mutant transcript owing to failure of a negative feedback mechanism.

TL;DR: To identify the sites in the p53 tumor suppressor gene most susceptible to carcinogenic mutation by sunlight, the entire coding region of 27 basal cell carcinomas of the skin was sequenced.

TL;DR: Gorlin syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas and all informative kindreds showed tight linkage between the Gorlin syndrome gene and a genetic marker in this region.

TL;DR: Inactivation of a gene on chromosome 9q22 may be a necessary event for basal cell carcinogenesis, and the pathogenesis of mutations in this gene may involve factors other than sunlight in a large proportion of tumors.