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Article: A frequent activated smoothened mutation in sporadic basal cell carcinomas

TitleA frequent activated smoothened mutation in sporadic basal cell carcinomas
Authors
Issue Date1999
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/onc
Citation
Oncogene, 1999, v. 18 n. 3, p. 833-836 How to Cite?
AbstractBasal-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. 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.
Persistent Identifierhttp://hdl.handle.net/10722/148181
ISSN
2015 Impact Factor: 7.932
2015 SCImago Journal Rankings: 4.047
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorXie, Jen_US
dc.contributor.authorTo, KFen_US
dc.contributor.authorNg, HKen_US
dc.contributor.authorLee, KCen_US
dc.contributor.authorYuen, NWFen_US
dc.contributor.authorLim, PLen_US
dc.contributor.authorChan, LYSen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorMccormick, Fen_US
dc.date.accessioned2012-05-29T06:11:18Z-
dc.date.available2012-05-29T06:11:18Z-
dc.date.issued1999en_US
dc.identifier.citationOncogene, 1999, v. 18 n. 3, p. 833-836en_US
dc.identifier.issn0950-9232en_US
dc.identifier.urihttp://hdl.handle.net/10722/148181-
dc.description.abstractBasal-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. 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.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/oncen_US
dc.relation.ispartofOncogeneen_US
dc.subject.meshCarcinoma, Basal Cell - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshReceptors, Cell Surface - Geneticsen_US
dc.subject.meshReceptors, G-Protein-Coupleden_US
dc.titleA frequent activated smoothened mutation in sporadic basal cell carcinomasen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/sj.onc.1202360en_US
dc.identifier.pmid9989836en_US
dc.identifier.scopuseid_2-s2.0-0033590605en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033590605&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume18en_US
dc.identifier.issue3en_US
dc.identifier.spage833en_US
dc.identifier.epage836en_US
dc.identifier.isiWOS:000078394400031-
dc.publisher.placeUnited Kingdomen_US

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