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Conference Paper: The functional -969C/T promoter polymorphism in BRCA1 decreases breast cancer risk in Chinese women

TitleThe functional -969C/T promoter polymorphism in BRCA1 decreases breast cancer risk in Chinese women
Authors
Issue Date2007
PublisherAmerican Association for Cancer Research
Citation
AACR 98th Annual Meeting, Los Angeles, CA, 14–18 April 2007. In Cancer Research, 2007, v. 67 n. 9S, p. 1721 How to Cite?
AbstractBRCA1 is an important breast cancer susceptibility gene. As promoter polymorphisms can alter the binding site and transcriptional activity of genes and affect susceptibility to disease, we evaluated the association of BRCA1 promoter polymorphisms with breast cancer risk. Polymorphisms in the promoter region of BRCA1 were identified from dbSNP and by direct sequencing of 20 Chinese individuals. Four polymorphisms, -1508 T/C, -969 C/T, -708 A/G and -600 (ACA)1/(ACA)2, were identified and initially evaluated in 390 pairs of cases and controls from Hong Kong. Statistical significant genotype and allelic associations were found for the -969 C/T polymorphism but not for the other three polymorphisms. Haplotype containing -969 T showed lower risk for breast cancer, the association was stronger in older women (OR=0.70; 95% CI: 0.51-0.96). Individuals carrying the -969 CT or TT genotype, had a reduced risk for breast cancer (OR=0.64; 95% CI=0.47-0.88, p=0.005), and the association was more evident among older women (aged over 45 years) who did not have a family history of breast cancer (OR=0.51, 95%CI=0.32 - 0.81). This association was replicated on a large population-based case-control group of Chinese consisting of 1109 cases and 1185 controls recruited from Shanghai, adjusted OR=0.85 for all women and OR=0.79 (95%CI=0.63 - 0.99) for older women without a family history of breast cancer. Test of heterogeneity comparing the reduced odds ratio between these two populations did not demonstrate any significant difference (p=0.110), allowing for test for overall association based on these two populations. The combined OR=0.75, 95%CI=0.61-0.91; p=0.0037 thus confirms the reduced risk in older women without family history of breast cancer. Preliminary analysis of luciferase reporter promoter activity assay showed that the BRCA1 promoter containing the -969T allele demonstrated 1.7-fold increased activity. Our results suggest that BRCA1 promoter polymorphisms contribute to breast cancer susceptibility, particularly in older women without family history of breast cancer.
Persistent Identifierhttp://hdl.handle.net/10722/113744
ISSN
2015 Impact Factor: 8.556
2015 SCImago Journal Rankings: 5.372

 

DC FieldValueLanguage
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorLiu, Wen_HK
dc.contributor.authorLong, JRen_HK
dc.contributor.authorYip, SPen_HK
dc.contributor.authorCheung, ANYen_HK
dc.contributor.authorChua, DTTen_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorNgan, HYSen_HK
dc.contributor.authorZheng, Wen_HK
dc.contributor.authorChan, YKen_HK
dc.date.accessioned2010-09-26T04:29:18Z-
dc.date.available2010-09-26T04:29:18Z-
dc.date.issued2007en_HK
dc.identifier.citationAACR 98th Annual Meeting, Los Angeles, CA, 14–18 April 2007. In Cancer Research, 2007, v. 67 n. 9S, p. 1721en_HK
dc.identifier.issn0008-5472-
dc.identifier.urihttp://hdl.handle.net/10722/113744-
dc.description.abstractBRCA1 is an important breast cancer susceptibility gene. As promoter polymorphisms can alter the binding site and transcriptional activity of genes and affect susceptibility to disease, we evaluated the association of BRCA1 promoter polymorphisms with breast cancer risk. Polymorphisms in the promoter region of BRCA1 were identified from dbSNP and by direct sequencing of 20 Chinese individuals. Four polymorphisms, -1508 T/C, -969 C/T, -708 A/G and -600 (ACA)1/(ACA)2, were identified and initially evaluated in 390 pairs of cases and controls from Hong Kong. Statistical significant genotype and allelic associations were found for the -969 C/T polymorphism but not for the other three polymorphisms. Haplotype containing -969 T showed lower risk for breast cancer, the association was stronger in older women (OR=0.70; 95% CI: 0.51-0.96). Individuals carrying the -969 CT or TT genotype, had a reduced risk for breast cancer (OR=0.64; 95% CI=0.47-0.88, p=0.005), and the association was more evident among older women (aged over 45 years) who did not have a family history of breast cancer (OR=0.51, 95%CI=0.32 - 0.81). This association was replicated on a large population-based case-control group of Chinese consisting of 1109 cases and 1185 controls recruited from Shanghai, adjusted OR=0.85 for all women and OR=0.79 (95%CI=0.63 - 0.99) for older women without a family history of breast cancer. Test of heterogeneity comparing the reduced odds ratio between these two populations did not demonstrate any significant difference (p=0.110), allowing for test for overall association based on these two populations. The combined OR=0.75, 95%CI=0.61-0.91; p=0.0037 thus confirms the reduced risk in older women without family history of breast cancer. Preliminary analysis of luciferase reporter promoter activity assay showed that the BRCA1 promoter containing the -969T allele demonstrated 1.7-fold increased activity. Our results suggest that BRCA1 promoter polymorphisms contribute to breast cancer susceptibility, particularly in older women without family history of breast cancer.-
dc.languageengen_HK
dc.publisherAmerican Association for Cancer Research-
dc.relation.ispartofCancer Researchen_HK
dc.titleThe functional -969C/T promoter polymorphism in BRCA1 decreases breast cancer risk in Chinese womenen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailKhoo, US: uskhoo@pathology.hku.hken_HK
dc.identifier.emailCheung, ANY: anycheun@hkucc.hku.hken_HK
dc.identifier.emailChua, DTT: danielchua@hksh.comen_HK
dc.identifier.emailNgan, HYS: hysngan@hkucc.hku.hken_HK
dc.identifier.emailChan, YK: kelvinc@pathology.hku.hken_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityCheung, ANY=rp00542en_HK
dc.identifier.authorityNgan, HYS=rp00346en_HK
dc.identifier.authorityChan, YK=rp00453en_HK
dc.identifier.hkuros127148en_HK

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