Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors

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dc.contributor.authorTapia, Teresa
dc.contributor.authorSmalley, Susan V.
dc.contributor.authorKohen, Paulina
dc.contributor.authorMunoz, Alex
dc.contributor.authorSolis, Luisa M.
dc.contributor.authorCorvalan, Alejandro
dc.contributor.authorFaundez, Paola
dc.contributor.authorDevoto, Luigi
dc.contributor.authorCamus, Mauricio
dc.contributor.authorAlvarez, Manuel
dc.contributor.authorCarvallo, Pilar
dc.date.accessioned2024-01-10T12:07:45Z
dc.date.available2024-01-10T12:07:45Z
dc.date.issued2008
dc.description.abstractGermline mutations in BRCA1 account for a low proportion of hereditary cases in diverse populations. Several efforts have been made to find new genes involved in the inheritance of breast cancer with no success until today. The participation of BRCA1 in the development of breast cancer has been proposed in several studies where hypermethylation of its promoter and a decrease in expression has been reported for sporadic cases and one study on familial cases. To explore the participation of BRCA1 in hereditary carcinogenesis through a different mechanism than the inheritance of germline mutations, we studied the methylation status of its promoter in breast tumors, from patients previously screened for BRCA1/BRCA2 germline mutations. We also determined the presence of the BRCA1 protein in these tumors and correlated both events with tumor grade, hormone receptors and ERBB2 presence. Promoter hypermethylation of the BRCA1 gene was detected in 51% of our biopsies, among which 67% did not express the respective protein. This result leads us to suggest that hypermethylation could be considered as an inactivating mechanism for BRCA1 expression, either as a first or second hit. Moreover, a number of biopsies with absence of expression on BRCA1 showed negative detection of estrogen and progesterone receptors, a similar phenotype to BRCA1 mutated breast tumors.
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.4161/epi.3.3.6387
dc.identifier.eissn1559-2308
dc.identifier.issn1559-2294
dc.identifier.pubmedidMEDLINE:18567944
dc.identifier.urihttps://doi.org/10.4161/epi.3.3.6387
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76319
dc.identifier.wosidWOS:000257180900008
dc.information.autorucMedicina;Camus M;S/I;100235
dc.information.autorucCiencias Biológicas;Carvallo P;S/I;104361
dc.information.autorucMedicina;Corvalán A;S/I;63885
dc.information.autorucCiencias Biológicas;Faúndez P;S/I;1001337
dc.information.autorucMedicina;Solís L;S/I;152740
dc.information.autorucCiencias Biológicas;Tapia T;S/I;16334
dc.information.autorucMedicina;Álvarez M;S/I;6131
dc.issue.numero3
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final163
dc.pagina.inicio157
dc.publisherTAYLOR & FRANCIS INC
dc.revistaEPIGENETICS
dc.rightsregistro bibliográfico
dc.subjectBRCA1 promoter hypermethylation
dc.subjectBRCA1 protein expression
dc.subjecthereditary breast cancer
dc.subjectbreast cancer biopsies
dc.subjectestrogen progesterone receptors
dc.subjectSPORADIC BREAST
dc.subjectESTROGEN-RECEPTOR
dc.subjectDNA METHYLATION
dc.subjectREGION
dc.subjectGENE
dc.subjectPHENOTYPE
dc.subjectCARCINOMA
dc.subjectALPHA
dc.subjectGRADE
dc.subjectSERUM
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePromoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors
dc.typeartículo
dc.volumen3
sipa.codpersvinculados100235
sipa.codpersvinculados104361
sipa.codpersvinculados63885
sipa.codpersvinculados1001337
sipa.codpersvinculados152740
sipa.codpersvinculados16334
sipa.codpersvinculados6131
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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