Tumour-specific distribution of BRCAI promoter region methylation supports a pathogenetic role in breast and ovarian cancer

dc.contributor.authorBianco-Miotto, T.
dc.contributor.authorChenevix-Trench, G.
dc.contributor.authorWalsh, D.
dc.contributor.authorCooper, J.
dc.contributor.authorDobrovic, A.
dc.date.issued2000
dc.description.abstractThe role of BRCA1 in sporadic breast and ovarian cancers remains elusive. Direct involvement of BRCA1 in the development of breast and ovarian cancer is suggested by the finding that the BRCA1 promoter region CpG island is methylated in a proportion of breast and ovarian cancers. The aim of this study was to compare the incidence of BRCA1 promoter region methylation in tumours in which loss of BRCA1 has been shown to play a role in pathogenesis (breast and ovarian carcinomas) with the incidence in tumours in which BRCA1 is unlikely to play a role in pathogenesis. Promoter region hypermethylation was significantly more common (P < 0.008) in breast and ovarian cancer (6/38 tumours methylated) than in colon cancer (0/35 tumours methylated) or in leukaemias (0/19 samples methylated). The restriction of BRCA1 promoter region hypermethylation to breast and ovarian cancer is consistent with a pathogenetic role of BRCA1 promoter methylation in these tumours. We suggest that the rarity of observed BRCA1 mutations in sporadic breast and ovarian cancer is due to the greater likelihood of BRCA1 inactivation by non-mutational mechanisms such as methylation.
dc.identifier.citationCarcinogenesis, 2000; 21(2):147-151
dc.identifier.doi10.1093/carcin/21.2.147
dc.identifier.issn0143-3334
dc.identifier.issn1460-2180
dc.identifier.orcidBianco-Miotto, T. [0000-0002-8431-5338]
dc.identifier.urihttp://hdl.handle.net/2440/9356
dc.language.isoen
dc.publisherOxford Univ Press
dc.source.urihttps://doi.org/10.1093/carcin/21.2.147
dc.subjectHumans
dc.subjectLeukemia
dc.subjectCarcinoma
dc.subjectBreast Neoplasms
dc.subjectColonic Neoplasms
dc.subjectOvarian Neoplasms
dc.subjectCell Transformation, Neoplastic
dc.subjectDNA, Neoplasm
dc.subjectOrgan Specificity
dc.subjectDNA Methylation
dc.subjectGene Expression Regulation, Neoplastic
dc.subjectGene Silencing
dc.subjectGene Duplication
dc.subjectCpG Islands
dc.subjectGenes, BRCA1
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectFemale
dc.subjectPromoter Regions, Genetic
dc.titleTumour-specific distribution of BRCAI promoter region methylation supports a pathogenetic role in breast and ovarian cancer
dc.typeJournal article
pubs.publication-statusPublished

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