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Article: CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes

TitleCpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes
Authors
KeywordsBRCA1
BRCA2
Breast cancer susceptibility gene
Gene mutation
Issue Date2007
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febslet
Citation
FEBS Letters, 2007, v. 581 n. 24, p. 4668-4674 How to Cite?
AbstractThe range of BRCA1/BRCA2 gene mutations is diverse and the mechanism accounting for this heterogeneity is obscure. To gain insight into the endogenous mutational mechanisms involved, we evaluated the association of specific sequences (i.e. CpG/CpNpG motifs, homonucleotides, short repeats) and mutations within the genes. We classified 1337 published mutations in BRCA1 (1765 BRCA2 mutations) for each specific sequence, and employed computer simulation combined with mathematical calculations to estimate the true underlying tendency of mutation occurrence. Interestingly, we found no mutational bias to homonucleotides and repeats in deletions/insertions and substitutions but striking bias to CpG/CpNpG in substitutions in both genes. This suggests that methylation-dependent DNA alterations would be a major mechanism for mutagenesis. © 2007 Federation of European Biochemical Societies.
Persistent Identifierhttp://hdl.handle.net/10722/75377
ISSN
2023 Impact Factor: 3.0
2023 SCImago Journal Rankings: 1.208
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCheung, LWTen_HK
dc.contributor.authorLee, YFen_HK
dc.contributor.authorNg, TWen_HK
dc.contributor.authorChing, WKen_HK
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorNg, MKPen_HK
dc.contributor.authorWong, ASTen_HK
dc.date.accessioned2010-09-06T07:10:32Z-
dc.date.available2010-09-06T07:10:32Z-
dc.date.issued2007en_HK
dc.identifier.citationFEBS Letters, 2007, v. 581 n. 24, p. 4668-4674en_HK
dc.identifier.issn0014-5793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/75377-
dc.description.abstractThe range of BRCA1/BRCA2 gene mutations is diverse and the mechanism accounting for this heterogeneity is obscure. To gain insight into the endogenous mutational mechanisms involved, we evaluated the association of specific sequences (i.e. CpG/CpNpG motifs, homonucleotides, short repeats) and mutations within the genes. We classified 1337 published mutations in BRCA1 (1765 BRCA2 mutations) for each specific sequence, and employed computer simulation combined with mathematical calculations to estimate the true underlying tendency of mutation occurrence. Interestingly, we found no mutational bias to homonucleotides and repeats in deletions/insertions and substitutions but striking bias to CpG/CpNpG in substitutions in both genes. This suggests that methylation-dependent DNA alterations would be a major mechanism for mutagenesis. © 2007 Federation of European Biochemical Societies.en_HK
dc.languageengen_HK
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febsleten_HK
dc.relation.ispartofFEBS Lettersen_HK
dc.subjectBRCA1en_HK
dc.subjectBRCA2en_HK
dc.subjectBreast cancer susceptibility geneen_HK
dc.subjectGene mutationen_HK
dc.subject.meshBRCA1 Protein - genetics-
dc.subject.meshBRCA2 Protein - genetics-
dc.subject.meshBreast Neoplasms - genetics - pathology-
dc.subject.meshGenetic Predisposition to Disease - genetics-
dc.subject.meshOpen Reading Frames - genetics-
dc.titleCpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genesen_HK
dc.typeArticleen_HK
dc.identifier.emailNg, TW: ngtw@hku.hken_HK
dc.identifier.emailChing, WK: wching@hku.hken_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.emailWong, AST: awong1@hkucc.hku.hken_HK
dc.identifier.authorityNg, TW=rp00768en_HK
dc.identifier.authorityChing, WK=rp00679en_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityWong, AST=rp00805en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1016/j.febslet.2007.08.061en_HK
dc.identifier.pmid17826769-
dc.identifier.scopuseid_2-s2.0-34548679388en_HK
dc.identifier.hkuros138469en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34548679388&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume581en_HK
dc.identifier.issue24en_HK
dc.identifier.spage4668en_HK
dc.identifier.epage4674en_HK
dc.identifier.isiWOS:000250102900021-
dc.publisher.placeNetherlandsen_HK
dc.identifier.scopusauthoridCheung, LWT=14119560800en_HK
dc.identifier.scopusauthoridLee, YF=14527155400en_HK
dc.identifier.scopusauthoridNg, TW=7402229732en_HK
dc.identifier.scopusauthoridChing, WK=13310265500en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridNg, MKP=34571761900en_HK
dc.identifier.scopusauthoridWong, AST=23987963300en_HK
dc.identifier.issnl0014-5793-

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