| Turkish Journal of Cancer |
| 2008, Volume 38, Number 4, Page(s) 167-174 |
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| BRCA1 gene mutation in familial breast cancer |
| AMINA EL GEZEERY1, NOHA MAHMOUD1, AMAL MOUSTAFA1, HANAN MAHROUS1, HESHAM MAHMOUD2, NADIA ABD EL-MENAM3 |
1Alexandria University Medical Research Institute, Department of Human Genetic, Alexandria-Egypt 2Alexandria University Institute of Graduate Studies and Research, Department of Bioscience and Technology, Alexandria-Egypt 3Alexandria University Medical Research Institute, Department of Oncology, Alexandria-Egypt |
This study was conducted to estimate the frequency of
BRCA1 (185delAG) mutation in Egyptian female patients
with breast cancer. Forty selected female patients with
breast cancer, 80 of their female relatives and 10 healthy
females as a control group were included in this study. The
age of onset of breast cancer was below 40 years in 25
(62.5%) patients and above 40 years in 15 (37.5%) patients.
There were significant differences among the patients regarding
the age at menarche before 13 years (p=0.011),
onset of breast cancer (p<0.001), parity (p<0.001), first
delivery before 30 years of age (p=0.04), breast feeding
(p=0.002), and positive family history (p<0.001). The frequency
of BRCA1 (185delAG) mutation was 10% in the
patients. Eight percent of patients with early onset below
40 years and 13.5% of patients with onset after 40 years
were heterozygotes for the mutation. Three percent of patients
with unilateral breast cancer, 40% of patients with
bilateral breast cancer and 50% of patients with breastovarian
cancer were carrying the mutation. Our results
indicated that breast-ovarian cancer and bilateral breast
cancer patients were likely to have BRCA1 (185delAG)
mutation than in unilateral breast cancer. [Turk J Cancer
2008;38(4):167-174]
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