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A frequent activated smoothened mutation in sporadic basal cell carcinomas

Oncogene, 1999-01, Vol.18 (3), p.833-836 [Peer Reviewed Journal]

1999 INIST-CNRS ;ISSN: 0950-9232 ;EISSN: 1476-5594 ;DOI: 10.1038/sj.onc.1202360 ;PMID: 9989836

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Title:
A frequent activated smoothened mutation in sporadic basal cell carcinomas
Author: LAM, C.-W ; JINGWU XIE ; TO, K.-F ; NG, H.-K ; LEE, K.-C ; YUEN, N. W.-F ; LIM, P.-L ; CHAN, L. Y.-S ; TONG, S.-F ; MCCORMICK, F
Subjects: Biological and medical sciences ; Carcinoma, Basal Cell - genetics ; Cell physiology ; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes ; Fundamental and applied biological sciences. Psychology ; Humans ; Molecular and cellular biology ; Point Mutation ; Receptors, Cell Surface - genetics ; Receptors, G-Protein-Coupled ; Smoothened Receptor
Is Part Of: Oncogene, 1999-01, Vol.18 (3), p.833-836
Description: Basal-cell carcinomas (BCCs) are the most common cancer in Caucasians. It has been reported that the patched gene is inactivated in 30-40% sporadic BCCs and 20% sporadic medulloblastomas via loss of heterozygosity and nonsense mutations. Recently, two activating smoothened mutations have been found in the sporadic basal cell carcinomas. One, at base pair 1604 (G-to-T transversion) of exon 9, changes codon 535 from tryptophan to leucine, and the other, at base pair 1685 (G-to-A transition) of exon 10, changes codon 562 from arginine to glutamine (Xie et al., 1998). In our study, 1604G-->T was found in 20 out of 97 (20.6%) sporadic BCCs. The high prevalence indicates that 1604G is the mutation hot spot in our tumor samples. This mutation was detected in all three histological subtypes of BCCs, suggesting that smoothened mutation is an early event during the development of the tumor. Our finding of a high smoothened mutation rate, together with high frequent patched gene mutations reported recently, indicates that activation of the hedgehog signal transduction pathway is the most common and early event in the development of sporadic BCCs. Additionally, to determine whether smoothened, like patched, is also involved in the carcinogenesis of medulloblastomas, we screened medulloblastoma samples for these two mutations by restriction analysis. We have found the 1604G-->T mutation in 1 out of 21 medulloblastomas. This result confirmed smoothened gene involvement in the carcinogenesis of medulloblastoma.
Publisher: Basingstoke: Nature Publishing
Language: English
Identifier: ISSN: 0950-9232
EISSN: 1476-5594
DOI: 10.1038/sj.onc.1202360
PMID: 9989836
Source: MEDLINE
Alma/SFX Local Collection

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A frequent activated smoothened mutation in sporadic basal cell carcinomas

1999 INIST-CNRS ;ISSN: 0950-9232 ;EISSN: 1476-5594 ;DOI: 10.1038/sj.onc.1202360 ;PMID: 9989836

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