مشروع البحث: Investigation of BRCA1 Genenetic variations in breast cancer in Libyan population
تحميل...
المساهمين
الممولين
رقم التعريف
7174
الباحث
هالة الهادي محمد الشويخ
الوصف
Introduction
The majority of hereditary breast and ovarian cancers are associated with mutations in two genes, breast cancer type 1 and 2 susceptibility genes (BRCA1 and BRCA2). Here, we describe for the first time analysis of BRCA1 exon 11 in 48 Libyan breast cancer patients with a family history of cancer.
Methods
All patients had a family history of cancer were included in the study (only if they have a family history of breast or ovarian cancer, male breast cancer, or triple negative tumors). PCR was performed using specific primer pairs spanning BRCA1 exon 11 followed by Sanger sequencing. geotype analysis was done using Sequencher® 5.1.
Results
We identified 12 genetic variants in BRCA1 exon 11. Three variants were novel (c.1019T>C, c.2363T>G, and c.3192T>C). c.2363T>G predicted by SIFT as damaging. Six variants were of unknown significance (c.1853G>C, c.1886G>A, c.2215A>G, c.2612C>T, c.3113A>C and c.3784T>C), and 3 were classified as benign in ClinVar database (c.918T>C, c.2082C>T and c.2311T>C).
Conclusions
Scanning of the entire BRCA1 is needed to identify any associated effect mutations. Although the clinical importance of unclassified variants is unknown, the association of certain variants with deleterious effects and contralateral breast cancer warrants genetic testing and counseling in the Libyan population.
الكلمات الدالة
Investigation of BRCA1 Genenetic variations in breast cancer in Libyan population