Date of Award
Master of Science (MS)
Dr. Yusra Saif Al Dhaheri
Breast Cancer (BC) is the most common cancer and the second most cause of death among women. Mutations in BRCA1 and BRCA2 genes confer high susceptibility to both breast and ovarian cancer. However, data on the prevalence of the BRCA1/2 mutations among breast and ovarian cancer patients is limited. The genetic component of breast cancer in the UAE is largely unknown and no study has evaluated the BRCA mutations status in breast and ovarian cancer patients in the UAE population. This retrospective study aimed to establish mutation frequencies of the BRCA genes in breast and ovarian cancer patients from the Northern Emirates and sought to examine the potential association of BRCA carriers and Triple- Negative Breast Cancer (TNBC). The study population included patients who underwent BRCA genetic testing at Sheikh Khalifa Specialty Hospital (SKSH) to determine hereditary breast/ovarian cancer. Mutations in BRCA1 and BRCA2 were analyzed by Sanger sequencing or next-generation sequencing (NGS) along with Multiple Ligation Probe Amplification (MLPA).
Among 262 patients, 224 (85.5%) had no mutation. BRCA mutations were identified in 38 patients (14.5%). BRCA1 and BRCA2 mutations were detected in 6.9% and 7.6% of the patients, respectively. A variant of unknown significance in BRCA1 was found in 0.4% of patients (one patient). TNBC accounted for 22% of all patients with Breast Cancer (BC) who underwent immunohistochemistry (28/127). Importantly, one novel BRCA1 mutation: c. (80+1_81-1) _ (441+1_442-1) dup in exons 3,5,6,7 was observed in one patient with ovarian cancer who showed positive family history and age ≤ 45. Moreover, two novel deletion mutations were identified in the BRCA2 gene. One deletion in exon 5 in ovarian cancer patients who showed positive family history and age ≤ 45. The second was a deletion in exons 10-13 observed in male patients with breast cancer with age ≤ 45. The current study results will help to establish the spectra of BRCA mutations and risks associated with breast and ovarian cancer in UAE patients.
Saeed, Zahra Ahmed Mohammed, "PREVALENCE OF BRCA1 AND BRCA2 MUTATIONS AMONG BREAST AND OVARIAN CANCER PATIENTS IN NORTHERN EMIRATES" (2020). Theses. 847.