Establishment of a rapid mutation detection technique for screening of BRCA1 and BRCA2 genes
Author
Öktem, Emre
Advisor
Özçelik, Tayfun
Date
1997Publisher
Bilkent University
Language
English
Type
ThesisItem Usage Stats
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Abstract
People bearing germline mutations in either BRCAl or BRCA2 genes are more
prone to breast cancer than other people. These two recently identified genes
account for nearly 90% of the hereditary cancer cases. This number corresponds
approximately to 100,000 women each year in Turkey. The individuals who carry
these mutations are at high risk and characterizing these mutations will be helpful
for providing them genetic counseling. This includes the estimation of risk for
both the individual and his/her progeny. In addition, discovering the mutations is
an important step in finding out the iunctions of these genes, which will give
insights about how breast cancer is occurring
In this study, we have established an easy and rapid mutation detection strategy;
heteroduplex analysis, and tested its efficiency in 15 hereditary breast cancer
patients. These patients have been screened for the entire exon 11 of BRCAl,
which is 50% o f the entire coding region. In addition, half of the exon 11 of
BRCA2, which is roughly one fourth of the coding region was examined in 10
patients. As yet, no mutation in the Turkish patients have been encountered
These results exclude exon 11 of the BRCAl gene and part of exon 11 of the
BRCA2 gene for nucleotide deletions and insertions as the cause of hereditary
breast cancer in Turkey. In order to verily the efficiency of the technique, we have
also screened four French hereditary breast cancer patients with previously
characterized BRCAl mutations in exon 11, and confirmed the presence o f the
mutations in the majority o f the cases With the technique, firmly established in
our laboratory, we plan to analyze the remaining coding regions of the BRCAl
and BRCA2 genes in our patient samples and in additional patients.