الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Breast cancer is the most common cancer among women all over of the world. The most common histological type is infiltrating ductal carcinoma which comprises about 70 to 80 % of all breast cancer types. The most important risk factors are age, positive family history for breast cancer specially in first degree relative, early menarche, late menopause, nulliparous, women with increased endogenous hormones (like estrogen and prolactin), and previous benign breast disease.
Three types could be recognized which are: Hereditary BC, familial BC and Sporadic BC. Familial and hereditary BC are attributed mainly to mutations in BRCA genes. A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumor suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact.
Our present study aimed to determine the diagnostic value of BRCA 1 gene mutations in female patients with breast cancer, also to correlate them with the presence or absence of family history of breast cancer and to allow identification of individuals at high risk.
All cases were subjected to full history taking, complete clinical examination, mammogram and biopsy for pathological examination. Laboratory investigations were done including routine as CBC, liver function tests as ALT and AST, renal function tests and specific as CA 15.3 and BRCA1 gene.
Our study detected only (1 case/ 4%) in familial group and also (1 case/ 4%) in sporadic group had heterozygous BRCA1 gene, also 1 case/ 4% from relatives who had other diseases or tumors had heterozygous BRCA1 gene. Additionaly, there was 1 case/ 4% only in familial group had homozygous BRCA1 gene, with non significant difference. This mean that total prevalence of BRCA1 gene185delAG mutation in our study was 8% in FBC, 4% in SBC and 4% in relatives.
Familial BC was found to be almost a decade earlier than sporadic type. There were also non significant increase premenopausal females in familial BC than sporadic BC which could be due to relatively younger age of familial female patients. There were non significant difference between groups regarding breast feeding as majority of females in four groups were breast feed and minority weren’t breast feed, there was also non significant difference between groups regarding use of contraception, 60% of familial group and 52% of sporadic group were using contraception, this prove that contraception use is risk factor for breast cancer.
The results of this study correspond to the results of many studies conducted on different populations worldwide as Jalkh et al. (2012) who identified BRCA1 germline deleterious mutations in 9 carriers among a cohort of 72 unrelated Lebanese patients with BC, providing a frequency of mutations which represents a prevalence of 12.5 % and Esteves et al. (2009) who found that the prevalence of germline mutations in the BRCA1 gene was 3.4% (21/612), also Juwle and Saranath. (2012) in india observed BRCA1 185delAG gene mutations including deleterious mutations and unclassified variants, in a relatively higher proportion of 52 % early-onset breast cancer patients. BRCA1 185delAG mutations were not detected in sporadic breast cancer patients, although 3 unclassified variants in three individual cases were identified in the sporadic cancers (Juwle and Saranath. 2012).
Conclusion
According to the results of the present study, it was concluded that:
- Presence of BRCA1 185delAG mutation in Egyptian BC patients in the studied groups with prevelance 8% in FBC and 4% SBC.
- Age of the familial BC is almost earlier than sporadic BC type.
- There was non significant increase of premenopausal females in familial BC than sporadic BC.
- There were no significant difference between sporadic BC, familial BC and controls as regards routine investigations, breastfeeding, contraception use, age, but there were significant difference as regards parity and CA 15.3.
Our study suggested that the prevalence of BRCA 1 mutations is lower in Sohag. So, complete BRCA 1 genes sequence analysis might be required for identification of specific mutation in Egyptian. Furthermore, there might be other genes that contribute more significantly to familial breast cancer in this population than BRCA1 genes.