Status and Association of BRCA1 and BRCA2 Mutation with Clinicopathological Features in Sudanese Patients with Breast Cancer

Abstract

Breast cancer is a real problem in Sudan. Onset at early age, presentation with late stage, and limited resources are characterizing national context of breast cancer in Sudan. Histopathology and cytology of breast cancer serve as tool to expand knowledge in order to improve prevention, management and quality of breast cancer patient life. The aim of this study was to find out prevalence of BRCA1 and BRCA2 among Sudanese patients and to investigate the association of BRCA1and BRCA2 genes with clinicopathological features in Sudanese patients with breast cancer. Histopathological procedures were used for preparation of histopathological slides from the tissue blocks from 179 breast cancer patients. One histopathological slide from diseased tissue and another from normal adjacent tissue were used; the normal tissue and the diseased tissue investigated with H&E stain and molecular biology PCR method on DNA extracted from tissue was used to assess BRCA1 and BRCA2 status. Average age was 41-50 years. Most of cases were females (174 cases) and few males (5cases). Most of cases present were ductal (150 cases) in the latter stage (Grade III, 69 cases). Also, most of cases had no lymph node metastasis (161cases). Statistically, there is significant difference in mutations frequency between diseased breast cancer tissue and normal adjacent tissue in regarding for BRCA1 and BRCA2 under investigation (P-value=0.000 for the two parameters). Statistically, we found strong significant correlation between the mutations BRCA1 and BRCA2. BRCA1 and BRCA2 had significant correlation with tumor grade; BRCA1 (P-value=0.009), BRCA2 (P-value=0.024). The results showed that there is no significant correlation between BRCA1 mutation in the diseased tissue and all the following: sex (P = 0.288), the age group (P = 0.918), the lymph node metastasis (P = 0.971), and the histological site of the breast lesion (P = 0.943). Also, there is no significant correlation between BRCA2 mutation in the diseased tissue and all the following: sex (P = 0.070), the age group (P = 0.758), the lymph node metastasis (P = 0.544), and the histological site of the breast lesion (P = 0.103). BRCA1 and BRCA2 can be used as diagnostic and prognostic markers, they related to aggressive form of breast cancer specially BRCA2. We recommend for national extensive program of awareness and screening for breast cancer for all Sudanese population along with establishing dataset portal for all cancers to be available for researchers freely.