Discussion Committee:
Dr. Ashraf Sawafta/ Supervisor
Dr. Bilal Ghareeb / External examiner
Dr. Ayman Hussein /Internal examiner
Supervisors:
Dr. Ashraf Sawafta/ Supervisor
Authors:
Rawan Ahmed Hussein Dardouk
Abstract:
Background: Breast cancer is the most common cancer among population in Palestine and the most common cancer related death among women. Breast cancer occurs in hereditary and sporadic forms. Hereditary breast cancer accounts for 20-30%, while sporadic breast accounts for 70-80%. Hereditary breast cancer has some distinctive clinical features compared with sporadic breast cancer, hereditary breast cancer appear at an earlier age and also more aggressive than sporadic breast cancer. Breast cancer susceptibility genes (BRCA1/2) account for the majority of hereditary breast and ovarian cancer. The consequences of germ-line mutation of BRCA genes are serious; BRCA1 and/or BRCA2 mutation carriers have a 50%-85% lifetime risk of developing breast cancer. By 50 years of age, 45% of BRCA1 mutation carriers and 20% of BRCA2 mutation carriers will have already developed breast cancer, compared to about 3% of non-carriers.
Objectives: Screening of the most common BRCA1 and BRCA2 mutations (185delAG and 5382insC of BRCA1, and 6174delT of BRCA2) in breast cancer patients and their healthy relatives in Palestine.
Methods: A total of 64 people from West Bank (breast cancer patients and healthy relatives) were included in this study. Genomic DNA was extracted from peripheral blood samples, and then BRCA1 and BRCA2 mutations were screened by Allele-specific polymerase chain reaction (ASPCR) or also known as amplification refractory mutations system (ARMS).
Results: BRCA1 (5382insC) mutation was found with 59.4% incidence rate and no (185delAG) mutation was detected for. While BRCA2 (6174delT) mutation was found with 30% incidence rate. Carriers (heterozygous) of mutations were patients and their healthy relatives.
Conclusion: In West Bank, BRCA1 (5328insC) and BRCA2 (6174delT) mutations are founder mutations.