The relationship between BRCA1, HER2, TP53 genes of breast cancer diagnostic

Breast cancer is a complex and heterogeneous disease that continues to pose significant challenges in both diagnosis and treatment. The staging and classification of breast cancer have evolved over the years, integrating both anatomical and biological factors to provide a more comprehensive understanding of the disease's progression and outcomes. The American Joint Committee on Cancer (AJCC) staging system, updated in its eighth edition in 2018, now incorporates biological markers alongside traditional anatomical criteria. Gene expression profiling has further delineated distinct molecular subtypes of breast cancer, aiding in more precise prognostication and targeted therapeutic approaches. The study's objective is to obtain data from patients diagnosed with breast cancer, analyze the differences, extract DNA from the breast tissue of mastectomy patients, and attempt to identify three genes associated with causing this disease. Additionally, the study aims to detect genetic mutations within these genes present in the collected samples. The samples were obtained from hospitals in Mosul city including AL-RABEE Hospital and Al-Jumhoory Hospital, with the help of supervisor pathologists. The patients' ages between 42-65 years, they lived in different environments and different conditions. A total of 11 samples were gathered from female patients who had undergone mastectomy or lumpectomy following essential examinations and tests including biopsy, MRI, breast ultrasound, X-ray, and mammogram. These patients had received a breast cancer diagnosis. After the surgery, the pathologist directly takes the sample from the mass and the lymph nodes near the mass (if found) approximately 1-2 gm. The samples were put in a container containing dH2O of about 5-10 mL, then kept in the freezer at -20℃ until the extraction of DNA. Samples showed the disparity of nodule size and site, and if the tumor has reached the lymph nodes or not in addition to the breast side and its type whether IDC, ILC, DCIS, or LCIS. Moreover, examination proved the presence of the disease depending on the shape and characteristics as an initial stage of diagnosis. The nodes are stony in texture, there are some important characters for studied samples. All samples demonstrated the presence of each BRCA1 gene, HER2 gene, and TP53 gene, except sample No. 5 TP53 gene was absent. The data of gel electrophoresis of the extracted and amplified DNA products proved the presence of one bundle separated for each sample of size 615 bp compared to the size of marker used that ranged from 100–1500 bp. Gel electrophoresis and alignment showed the presence of BRCA1 in all samples, this results may be improved that this gene is one of the mainly genes responsible for breast cancer. The obtained results showed the presence of a single band in the gel layer for each sample with size 330 bp by referring to the size of the marker except sample No.5 this clarified the existence of a band of molecular weight different from all samples. According to the B. HER2 gene, the Data demonstrated the presence of the HER2 gene in all samples. Additionally, gel electrophoresis proved this finding. The appearance of the gel under UV light exhibit that the molecular weight of HER2 gene is 290 bp compared with the size of the same marker used. In conclusion, the findings of this study indicate the presence of TP53, HER2, and BRCA1 genes in breast cancer samples, highlighting their potential role in the development and progression of the disease. Further research is needed to explore the specific mutations and functionalities of these genes in breast cancer and their implications for personalized therapy.