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
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Breast Neoplasms
/
Genes, BRCA1
/
Mutation
Type of study:
Etiology study
/
Risk factors
/
Screening study
Limits:
Adult
/
Aged80
/
Female
/
Humans
Country/Region as subject:
South America
/
Chile
Language:
English
Journal:
Biol. Res
Journal subject:
Biology
Year:
2002
Type:
Article
/
Project document
Affiliation country:
Chile
Institution/Affiliation country:
University of Chile/CL
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