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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genomic Profiling - A Need for Clinical Decision? -Case Reports
Ana-Maria Ciurea1, Michael Schenker1, Cristina Mihaela Ciofiac2
1Department of Oncology, University of Medicine and Pharmacy of Craiova, Romania.
Abstract:
Cancer is still an important health issue worldwide due to increased incidence and mortality. Personalized medicine is the future of cancer treatment. Development in technology improved technical skills in DNA/RNA sequencing. NGS technology in solid-tumor samples can describe DNA or RNA analysis by including the entire genome to detect clinical relevant mutations. Genetic results may be considered having a dynamic impact because of heterogenous molecular alterations depending of time and treatment influence. We conducted a retrospective study of all NGS tests made in the last five years for the patients from 'Sf. Nectarie' Oncology Center, Craiova, Romania. We selected three relevant clinical cases where NGS analysis was performed and the results changed the perspective of the clinical decision. Our aim is to evaluate the importance of NGS results in clinical approach. Although medicine known an important development during the last decades, only a few patients can benefit of advanced personalized treatments. It is still hard to identify the alterations or gene mutations because of genetic tests are not easily available and only a small proportion of patients carries genetic alterations.
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