Abstract:
BRC A1 is a tumor-suppressor gene responsible for the inhibition of
breast epithelial cell proliferation. The presence of a mutation in this gene
increases the risk of an individual's susceptibility to breast cancer. This
study was performed to detect the presence of mutations in the BRC A1
gene in selected Filipino breast cancer patients. Molecular analysis of the
gene was done using the Protein Truncation Test (PTT) and Single-Strand
Conformation Polymorphism (SSCI'). Results of the PTT analysis show
that there are 110 mutations in exon 11 for the 13 samples. SSCP results
show the presence of putative polymorphisms in exons 2, 5, 15, 16, and
18. Exons 20, 22, and 24 have negative results for SSCP analysis. The
occurrence of breast cancer, in the case of the 13 samples included in this
study, cannot therefore be linked to a truncated protein in exon 11 of the
BIU 'A I, as analyzed using PTT. Furthermore, the presence of genetic
aberrations in the other exons detected using SSCP cannot also be
sufficiently associated with breast cancer unless the specific mutational
event is identified. It is thereby recommended that DNA sequencing be
done on the exons with aberrant bands in order to classify the exact
mutation. For future studies, an increase in the number of samples would
probably result in a higher probability of detecting mutations attributed to
breast cancer.
