Challenges in Early Detection and Diagnosis of Breast Cancer: A Case Study on Imaging and Genetic Testing Limitations

Introduction Breast cancer is the most prevalent cancer among women. It is essential to conduct genetic testing for hereditary types to ensure an accurate diagnosis and treatment. In this case, a 43-year-old woman was diagnosed with breast cancer, her family history includes early-onset breast and stomach cancers. This situation underscores the importance of genetic testing alongside high-quality imaging to detect it at an early stage and provide appropriate care. Case Presentation The patient underwent a mammogram, which showed no significant findings. A hypoechoic area on ultrasound suggested potential abnormality. Retrospective analysis revealed that the tumor had been overlooked, likely due to low-resolution imaging and inadequate display resolution. A 10x10 mm mass in the right breast, classified as BIRADS 5, was identified. MRI showed larger mass and possible satellite lesion. No suspicious axillary lymph nodes were noted. Genetic testing showed no mutations despite the patient’s family history. It is possible that the diseasecausing genetic variant remains undetected due to the current limitations of diagnostic technology. Neoadjuvant chemotherapy led to a complete radiological response. A lumpectomy revealed invasive ductal carcinoma and ductal carcinoma in situ. Discussion This case highlights the importance of high-quality imaging in breast cancer diagnosis. The initial mammogram missed abnormalities due to low resolution and insufficient display settings. Advanced imaging, such as highresolution mammography and 3D tomosynthesis, are crucial for accurate detection, especially in dense tissue. Despite the patient’s family history, current genetic tests did not identify a mutation, emphasizing the limitations of existing genetic testing. This case calls for better imaging tools and expanded genetic testing to improve early detection. Conclusions This case highlights the importance of advanced imaging in early breast cancer detection. The initial diagnostic error was likely due to low-resolution imaging and poor display quality. High-resolution digital mammography, such as FFDM and 3D tomosynthesis, is crucial, along with proper monitor calibration for accurate interpretation. Despite a negative genetic test, patient's family history suggests a hereditary risk, underscoring the need for personalized care and monitoring.