Hereditary breast cancer caused by germline mutations in BRCA1 and BRCA2 genes in Palestinian women

العناوين الأخرى

سرطان الثدي الوراثي و التوصيف الجزيئي للجينات المرتبطة بها (BRCA2, BRCAI)‎ و انتشارها بين النساء الفلسطينيات

مقدم أطروحة جامعية

Jillah, Nansi Ibrahim

مشرف أطروحة جامعية

Farraj, Muhammad

الجامعة

جامعة بيرزيت

الكلية

كلية الصيدلة و التمريض و المهن الصحية

دولة الجامعة

فلسطين (الضفة الغربية)

الدرجة العلمية

ماجستير

تاريخ الدرجة العلمية

2019

الملخص الإنجليزي

Breast cancer is the most common malignancy among women worldwide and constitutes 22.9% of all cancers in women.

In Palestine, breast cancer is ranked the first among other cancers and constitutes 18.3% from all reported cancers with a mortality rate of 9.8%.

Hereditary breast cancer accounts for 5-10% of all breast cancers.

Germline mutations in the BRCA1 and BRCA2 genes are responsible for hereditary breast cancer and accounts for 25% of family risk.

Other genes are also associated with hereditary breast cancer but to lesser extent than the BRCA genes.

Tumors caused by germline mutations in BRCA1 gene have histologically aggressive features and are triple negative.

Patients with a family history of breast cancer are advised to make genetic testing to find out if they are carriers of any pathogenic variant and to take preventive measures as annual mammography, MRI, and mastectomy to reduce risk of breast cancer (BC).

This study was conducted to screen for the most common pathogenic variants that span different exons in BRCA1 and BRCA2 genes among Palestinian women from Gaza Strip and the West Bank.

DNA was extracted and selected regions were amplified by PCR.

A total of 50 patients and 50 controls were enrolled in the study .Three different techniques were used to detect these mutations : ARMSPCR , mismatch PCR –RFLP and PCR-RFLP .The results of the study were as follow: 3 probands had E1250x mutation and one proband had an 185delAG mutation which is considered the second most frequent mutation worldwide after 5382insC mutation.

التخصصات الرئيسية

التمريض

الموضوعات

عدد الصفحات

71

قائمة المحتويات

Table of contents.

Abstract.

Abstract in Arabic.

Chapter One : Introduction.

Chapter Two : Literature review.

Chapter Three : Materials and methods.

Chapter Four : Results.

Chapter Five : Discussion.

Chapter Six : Conclusions and recommendations.

References.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Jillah, Nansi Ibrahim. (2019). Hereditary breast cancer caused by germline mutations in BRCA1 and BRCA2 genes in Palestinian women. (Master's theses Theses and Dissertations Master). Birzeit University, Palestine (West Bank)
https://search.emarefa.net/detail/BIM-958211

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Jillah, Nansi Ibrahim. Hereditary breast cancer caused by germline mutations in BRCA1 and BRCA2 genes in Palestinian women. (Master's theses Theses and Dissertations Master). Birzeit University. (2019).
https://search.emarefa.net/detail/BIM-958211

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Jillah, Nansi Ibrahim. (2019). Hereditary breast cancer caused by germline mutations in BRCA1 and BRCA2 genes in Palestinian women. (Master's theses Theses and Dissertations Master). Birzeit University, Palestine (West Bank)
https://search.emarefa.net/detail/BIM-958211

لغة النص

الإنجليزية

نوع البيانات

رسائل جامعية

رقم السجل

BIM-958211