Title: Identify BRCA1 Gene Mutations in exon 11 in Ovarian Cancer Patients in Sudan
Authors: Alaa Mubarak Ahmed ELbasheer, Adil Mergani Babikir Hassan, Ibrahim B. Elemam, Yousif Abdelhameed Mohammed, Abdelraheem Ali Babikir, Randa alginad Mohamed, Wissam Badi Hassan
Volume: 9
Issue: 11
Pages: 32-38
Publication Date: 2025/11/28
Abstract:
Ovarian cancer (OC) is a leading cause of death from gynecological malignancies worldwide. In Sudan, limited studies have examined the genetic factors contributing to OC, particularly BRCA1 mutations. Aim of study to identify BRCA mutations in exon 11 using direct sequencing in Sudanese women with OC diagnosis who have a family history of the disease. To detect potential pathogenic mutations in high-risk patients. Targeted Sanger sequencing of BRCA1 exon 11 was performed on 11 OC samples from women with a family history of OC or early-onset disease. pathogenic BRCA1 mutations were detected in the sequenced samples for a BRCA1 rs799917 SNP in one patient. The study highlights the need for broader genomic studies to clarify genetic and non-genetic risk factors in this population. This is the first study to examine BRCA1 mutations in Sudanese OC patients. The findings suggest that other genes may contribute to OC susceptibility in this population. Further research integrating demographic and genetic analyses is necessary to develop effective prevention and treatment strategies.