Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9 - PubMed (original) (raw)
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
M R Gailani et al. Cell. 1992.
Abstract
Gorlin syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. To investigate the possibility that the syndrome is caused by mutation in a tumor suppressor gene, we searched for loss of heterozygosity in 16 sporadic basal cell carcinomas, 2 hereditary basal cell carcinomas, and 1 hereditary ovarian fibroma and performed genetic linkage studies in five Gorlin syndrome kindreds. Eleven sporadic basal cell carcinomas and all 3 hereditary tumors had allelic loss of chromosome 9q31, and all informative kindreds showed tight linkage between the Gorlin syndrome gene and a genetic marker in this region. Loss of heterozygosity at this chromosomal location, particularly in hereditary tumors, implies that the gene is homozygously inactivated and normally functions as a tumor suppressor. In contrast, hemizygous germline mutations lead to multiple congenital anomalies.
Similar articles
- Nevoid basal cell carcinoma syndrome.
Bale AE, Gailani MR, Leffell DJ. Bale AE, et al. J Invest Dermatol. 1994 Nov;103(5 Suppl):126S-130S. doi: 10.1111/1523-1747.ep12399438. J Invest Dermatol. 1994. PMID: 7963674 Review. - The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis.
Bale AE. Bale AE. Cancer Invest. 1997;15(2):180-6. doi: 10.3109/07357909709115772. Cancer Invest. 1997. PMID: 9095215 Review. - Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani MR, Siu VM, Yang-Feng T, Pressman CL, Levanat S, Goldstein A, Dean M, Bale AE. Shimkets R, et al. Am J Hum Genet. 1996 Aug;59(2):417-22. Am J Hum Genet. 1996. PMID: 8755929 Free PMC article. - Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.
Chenevix-Trench G, Wicking C, Berkman J, Sharpe H, Hockey A, Haan E, Oley C, Ravine D, Turner A, Goldgar D, et al. Chenevix-Trench G, et al. Am J Hum Genet. 1993 Sep;53(3):760-7. Am J Hum Genet. 1993. PMID: 8352281 Free PMC article. - [From gene to disease: basal cell naevus syndrome].
de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM. de Meij TG, et al. Ned Tijdschr Geneeskd. 2005 Jan 8;149(2):78-81. Ned Tijdschr Geneeskd. 2005. PMID: 15688838 Review. Dutch.
Cited by
- Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.
van der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ. van der Merwe NC, et al. Front Oncol. 2022 Dec 7;12:938561. doi: 10.3389/fonc.2022.938561. eCollection 2022. Front Oncol. 2022. PMID: 36568162 Free PMC article. - Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families.
Castillo-Tobar A, Urzúa B, Tirreau V, Donoso F, Pinares J, Cosmelli-Maturana R, Ortega-Pinto A. Castillo-Tobar A, et al. Oral Radiol. 2023 Jul;39(3):518-527. doi: 10.1007/s11282-022-00664-5. Epub 2022 Nov 27. Oral Radiol. 2023. PMID: 36436193 - Novel Approaches in Non-Melanoma Skin Cancers-A Focus on Hedgehog Pathway in Basal Cell Carcinoma (BCC).
Chmiel P, Kłosińska M, Forma A, Pelc Z, Gęca K, Skórzewska M. Chmiel P, et al. Cells. 2022 Oct 13;11(20):3210. doi: 10.3390/cells11203210. Cells. 2022. PMID: 36291078 Free PMC article. Review. - Modulation of Hedgehog Signaling for the Treatment of Basal Cell Carcinoma and the Development of Preclinical Models.
Dukes MW, Meade TJ. Dukes MW, et al. Biomedicines. 2022 Sep 23;10(10):2376. doi: 10.3390/biomedicines10102376. Biomedicines. 2022. PMID: 36289637 Free PMC article. Review. - Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.
Hoashi T, Kanda N, Saeki H. Hoashi T, et al. Int J Mol Sci. 2022 Oct 8;23(19):11968. doi: 10.3390/ijms231911968. Int J Mol Sci. 2022. PMID: 36233269 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Other Literature Sources
Molecular Biology Databases