Determination of a BRCA1 gene mutation in a family with hereditary breast cancer

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dc.contributor.authorGallardo, M
dc.contributor.authorFaundez, P
dc.contributor.authorCruz, A
dc.contributor.authorRodriguez, M
dc.contributor.authorAlvarez, M
dc.contributor.authorCarvallo, P
dc.date.accessioned2024-01-10T12:38:18Z
dc.date.available2024-01-10T12:38:18Z
dc.date.issued2004
dc.description.abstractBackground: Breast cancer is the main cause of death among fore, the women between 40 and 55 years old, in whom the hereditary cases are common. Therefore molecular diagnosis of germ line initiations involved in breast cancer susceptibilily is relevant. BRCA1 and BRCA2 have been described as the two major genes involved in familial breast/ovarian cancer. We are performing a screening for BRCA 1 and BRCA2 genes, in a group of 50 high risk Chilean families for breast/ovarian cancer. We have detected a mutation, 3936 C > T, that leads to a truncated protein, in two affected women from one of the families in study.
dc.description.abstractAim: To report the results of the screening for 3936 C > T healthy relatives of index women.
dc.description.abstractMaterial and methods: The molecular diagnosis of this mutation was offered to the healthy inemembers of this family, and 17 relatives accepted to be tested. The region of the BRCA 1 gene that includes the 3936 C > T mutation, was analyzed through PCR amplification, digestion with restriction enzyme BstNI, and direct sequencing.
dc.description.abstractResults: 3936 C > T DNA mutation was present in 8 relatives.
dc.description.abstractConclusions: Considering the high risk, of having a mutation in the BRCA 1 gene, specially in pre-menopausal women, the molecualr diagnosis, genetic and clinical counseling are highly relevant. In Chile the molecualr diagnosis is still not widely applied.
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:15449557
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/77020
dc.identifier.wosidWOS:000228070000010
dc.information.autorucCiencias Biológicas;Alvarez M.;S/I;186954
dc.information.autorucCiencias Biológicas;Carvallo P.;S/I;104361
dc.information.autorucCiencias Biológicas;Faúndez P.;S/I;1001337
dc.information.autorucCiencias Biológicas;Quintanilla M.;S/I;171905
dc.information.autorucCiencias Biológicas;Rodriguez M.;S/I;116578
dc.issue.numero2
dc.language.isoes
dc.nota.accesoSin adjunto
dc.pagina.final210
dc.pagina.inicio203
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsregistro bibliográfico
dc.subjectBRCA1 protein
dc.subjectbreast neoplasms
dc.subjectgenes
dc.subjectBRCA 1
dc.subjectBILATERAL PROPHYLACTIC MASTECTOMY
dc.subjectOVARIAN-CANCER
dc.subjectCHILEAN WOMEN
dc.subjectCARRIERS
dc.subjectRISK
dc.subjectSUSCEPTIBILITY
dc.subjectOOPHORECTOMY
dc.subjectONSET
dc.subjectEXPRESSION
dc.subjectCARCINOMA
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleDetermination of a BRCA1 gene mutation in a family with hereditary breast cancer
dc.typeartículo
dc.volumen132
sipa.codpersvinculados186954
sipa.codpersvinculados104361
sipa.codpersvinculados1001337
sipa.codpersvinculados171905
sipa.codpersvinculados116578
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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