Mutations in breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) have
higher frequency in breast cancer cases. Three founder mutations 185delAG and
5382insC in BRCA1 and 6174delT in BRCA2 are frequently reported in breast cancer
patients from various ethnic backgrounds. The aim of the current study was to
evaluate the frequency of the BRCA1 and BRCA2 mutations in Eastern Egyptian
sporadic breast cancer patients and their relatives as possible diagnostic markers.
One hundred women with sporadic breast cancer and one hundred healthy firstdegree
relatives were included in the study. Multiplex polymerase chain reaction
method was used to analyze the DNA prepared from peripheral blood. Data analysis
showed that 185delAG mutation in BRCA1 was expressed at low frequency (3%),
whereas the 5382insC in BRCA1 and 6174delT in BRCA2 were not detected within
the Eastern Egyptian population. Conclusion: The low percentage of BRCA1 and
BRCA2 mutations in apparently sporadic early- onset cancer and relatives suggested
that mutation detection is insufficient to screen Egyptian population.