P53 is the second most frequently mutated tumor suppressor gene representing about 40-60% of all cases of breast cancer (BC) patients. Even though BC can be considered a highly curable disease when detected early. It is often diagnosed at a later stage, due to fragile economic circumstances and lack of awareness. Thereby, the aim of the present study is to establish high resolution melting (HRM) assay as a rapid and economic screening tool for identifying presence of mutations in P53 gene among familial and non-familial BC patient hoping to assist in diagnosis and disease management.

Blood samples were collected from preoperatively Egyptian BC women, and genomic DNA was extracted from 25 familial, 25 non-familial BC patients and 25 healthy volunteers. Real-time PCR amplicons for exons 5-8 in P53 gene have been performed, followed by HRM to detect mutations.

Herein, we have detected 85 mutations in exons 5, 7, and 8. Our results have revealed that presence of positive variants in P53 exons as detected by HRM, were shown to be more frequent among BC patients than the control group (P =0.001). Moreover, percentage of BC patients who responded to hormonal therapy (HT) were found to be more among familial than non-familial group (P= 0.001). Furthermore, we have found that hormonal receptors estrogen (ER) and progestogen (PR) were more expressed among both familial and non-familial BC patients compared to the expression of human epidermal receptor 2 (Her2) among the same groups. Interestingly and according to our results, patients with single mutation were found to be at lower tumor stage when compared to those with multiple exon mutations who had higher tumor stage (P=0.018).

HRM was established as an economic prognostic tool for identifying mutations in the P53 gene, which might be correlated to the risk of Egyptian BC development in women. Yet, a larger sample size needs to be studied, since all research findings underline the importance of establishing an Egyptian BC database taking into consideration clinical and pathological criteria, that can play a crucial role in drug responsiveness and disease management.