Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer

• Published in: Clinica chimica acta 2024-07, Vol.561, p.119818, Article 119818
• Main Authors: Wahab, Mugip Rahaman Abdul, Palaniyandi, Thirunavukkarasu, Thamada, Swarnakala, Viswanathan, Sandhiya, Baskar, Gomathy, Surendran, Hemapreethi, Baraneedharan, P, Kannan, J, Ravi, Maddaly, Rajinikanth, Suba, El-Tayeb, Mohamed A., Syed, Shaban
• Format: Article
• Language: English
• Subjects: Breast cancer; Breast cancer genes; Circulating tumor DNA; Gene mutations; Liquid biopsy; PCR; Sanger sequencing
• ISSN: 0009-8981; 1873-3492; 1873-3492
• DOI: 10.1016/j.cca.2024.119818

•Cancer is a major global health issue, and early detection of the disease can significantly improve patient outcomes. ctDNA, which is genetic material shed by tumour cells into the bloodstream, can be a valuable tool for detecting cancer and monitoring disease progression.•This technique is often used to identify a range of tumour markers, providing a simple and fast method for detecting circulating cancer cells in cancer patients.•ctDNA analysis is an innovative approach that allows for faster access to tumour samples in a clinical setting, avoiding the need for a traditional tissue biopsy.•Our findings underscore the significance of precise DNA isolation in generating high-quality samples for further ctDNA analysis and in selecting high-coverage gene panels. This approach can provide valuable information on the mutational status of tumour cells and help guide targeted or precision therapy decisions. Breast cancer, one of the most aggressive types of cancer, poses significant challenges for diagnosis and treatment. Emerging as a promising biomarker, circulating tumor DNA (ctDNA) can be used to identify and monitor disease risk. This study sought to examine the impact of mutations in various genes on the progression of breast cancer. Genetic variants associated with breast cancer have been examined in individuals diagnosed with the disease worldwide. Fifty female participants underwent breast cancer testing. Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes. Genetic alterations linked to breast cancer were screened and the findings were compared with those of tumor genes. The development of hereditary/early onset breast cancer in this study was significantly associated with mutations in ATM, PTEN, TP53, and BRCA1/BRCA2, according to the analysis of sequencing data. This study demonstrates the feasibility of analyzing ctDNA in patients with breast cancer (BC) undergoing palliative treatment using an SS-based technique.