Document Details

Document Type : Thesis 
Document Title :
INVESTIGATING THE BRCA1 AND BRCA2 MUTATIONS AS A RISK FACTOR IN THE SUSCEPTIBILITY OF OVARIAN CANCER
التحقق في طفرات BRCA1 و BRCA2 كعامل خطر في قابلية الإصابة بسرطان المبايض
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Background: Breast Cancer susceptibility genes (BRCA) mutations are considered as contributing risk factor that increases susceptibility to ovarian cancer (OC), that is associated with highest mortality rate amongst all gynecological malignancies worldwide. Interestingly, similar pattern was reported from Saudi Cancer Registry in term of OC incidence in Saudi women. Unfortunately, due to lack of early diagnosis of OC treatment is remains of potential challenge globally. Studies have established that, mutations in BRCA gene lead to well-defined molecular changes that may provide better prognostic significance in terms of effective treatment modalities. Nowadays, BRCA mutations testing is considered as important genetic test in disease prognosis, treatment planning as well as risk assessment. Aims: The aim of this study is to investigate the BRCA mutations among OC patients belonging to Saudi ethnicities. Methods: 18 OC cases were analyzed for BRCA1 mutations (185delAG;295delCA; 3450delCAAG) and for BRCA2 mutations (4866InseT;6079delAGTT). Mutations were analyzed through automated DNA sequencing method. Results: Majority of cases were diagnosed at stage III (67%), their age ranged from 44 to 91 years old and 93% of them were sensitive to platinum. No mutations detected among all patients. Conclusion: The association between BRCA mutations and development of OC was not observed among patients with OC in the Western region of Saudi Arabia. Since our study did not include all previously reported mutation rather the investigated mutations were partially selected from different ethnic group as reported in the literature. Therefore, we cannot rule out the possibility of the association between BRCA genes mutations and the developing of OC in the Saudi population as this has been well established globally. Our study is comprised on a limited number of OC samples, hence there is a need to carry out further large study which includes larger sample size along with full exon sequencing in order to validate and establish BRCA mutation with disease susceptibility in the Saudi population. 
Supervisor : Dr. Absarul Haque 
Thesis Type : Master Thesis 
Publishing Year : 1440 AH
2019 AD 
Added Date : Monday, August 26, 2019 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
اريج عبد الكريم الصاعديAlsaedi, Areej AbdulkarimResearcherMaster 

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