Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
Biol. Res
;
35(1): 85-93, 2002. ilus, tab
Article
Dans Anglais
| LILACS
| ID: lil-309740
ABSTRACT
Breast 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Tumeurs du sein
/
Gène BRCA1
/
Mutation
Type d'étude:
Etude d'étiologie
/
Facteurs de risque
/
Étude de dépistage
Limites du sujet:
Adulte
/
Aged80
/
Femelle
/
Humains
Pays comme sujet:
Amérique du Sud
/
Chili
langue:
Anglais
Texte intégral:
Biol. Res
Thème du journal:
Biologie
Année:
2002
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Chili
Institution/Pays d'affiliation:
University of Chile/CL
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