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), administration of 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.
However there are three founder mutation in BRCA genes: two in BRCA1 ((BRCA1 185delAG, BRCA1 5382insC) and only 1 in BRCA 2 (BRCA2 6174delT).
BRCA1 185delAG is the most dangerous mutation which has been reported to be found in populations all over the world and not just Ashkenazi Jews as was once believed.
Our present study aimed for detection of BRCA1 185delAG mutation in females with both familial and sporadic BC using Pyrosequencing technique. . Hundred subjects were recruited in this study; forty familial BC patients and forty sporadic BC patients admitted to cancer presented to general surgery department or medical oncology department at Alexandria Main University Hospital from January 2015 to October 2015 and another 20 healthy control volunteers as a control group.
All cases were subjected to full history taking, complete clinical examination, mammogram and biopsy for pathological examination. Laboratory investigations were done including liver function tests (ALT and AST), renal function tests (urea and creatinine).
Our study detected the BRCA1 185delAG mutation has a Carrier frequency of 2.5 (95% confidence interval 1.1-2.4) of the BC patients. Almost two or three in each hundred Egyptian female familial breast cancer patients have this devastating mutation.
Also there were age difference between the sporadic and familial BC patients. Familial BC was found to be almost a decade earlier than sporadic type.
There were also significant increase premenopausal females in familial BC than sporadic BC which could be due to relatively younger age of familial female patients.
There were significant increase in luminal A hormonal receptor status (ER/PR +ve, Her2/neu –ve) with sporadic BC than familial type. There were no correlation between triple negative BC and BRCA mutations.
The results of this study correspond to the results of many studies conducted on different populations worldwide. However, some studies contradict the results of this study.