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dc.creatorJARA,LILIAN
dc.creatorAMPUERO,SANDRA
dc.creatorSECCIA,LORENA
dc.creatorBUSTAMANTE,MARIO
dc.creatorBLANCO,RAFAEL
dc.creatorOJEDA,JOSÉ MANUEL
dc.date2002-01-01
dc.date.accessioned2019-09-10T12:42:29Z
dc.date.available2019-09-10T12:42:29Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0716-97602002000100011
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/107146
dc.descriptionBreast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cancer susceptibility genes, and mutations in these genes are related to inherited breast cancer. In specific populations only some mutations have been found to be associated with susceptibility. The purpose of this study was to establish the frequency of 5382insC (BRCA1) and 6174delT (BRCA2) germline mutations in 382 healthy Chilean women with at least two relatives affected with breast cancer and in probands and their relatives from 8 high risk families for breast cancer, using mismatch PCR assay. The results obtained showed that 5382insC and 6174delT mutations were not found in either of the groups studied. The ethnic origin of the contemporary Chilean population and the data reported in the literature suggest that these mutations may be absent or have a very low frequency in this population.. This genetic study is part of a breast cancer screening program that also includes annual mammography and clinical breast examination over a five-year period. Strategies to reduce morbidity and mortality associated with breast cancer lie in early detection in women with genetic risk.
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dc.languageen
dc.publisherSociedad de Biología de Chile
dc.relation10.4067/S0716-97602002000100011
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceBiological Research v.35 n.1 2002
dc.subjectBreast Cancer
dc.subjectBRCA1 and BRCA2 genes
dc.subjectMutations
dc.subjectChilean Women
dc.titleAnalysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer


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