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.