TY  - JOUR
T1  - PRECISION ONCOLOGY-BASIC TO BEDSIDE
TT  - PRECISION ONCOLOGY-BASIC TO BEDSIDE
AU  - Verma, Amit
PY  - 2022
DA  - August
DO  - 10.26650/JARHS2021-1138049
JF  - Journal of Advanced Research in Health Sciences
JO  - SABİAD
PB  - Istanbul University
WT  - DergiPark
SN  - 2651-4060
SP  - 30
EP  - 30
VL  - 5
IS  - S-1
LA  - en
AB  - Basic science technologies and platforms have unraveled the molecular basis of carcinogenesis, both genetic and epigenetic events. Few of the eventswhich are repeatedly observed and are actionable, gave birth to the science “Precision Oncology”. The evolution of molecular testing has made a majorstride in the recent times, and has empowered personalized cancer medicine over the conventional blanket treatment. Among the important diagnostictechnologies, Next Generation Sequencing (NGS) based in-vitro diagnostics have contributed substantially to comprehensive genomic profiling (CGP) inclinical practice that is meant for the detection of substitutions, insertions and deletions (indels), copy number alterations, and gene rearrangements, aswell as genomic signatures including Microsatellite Instability (MSI), Loss of Heterozygosity (LOH), Homologous Recombination Defect (HRD Score), TumorMutation Burden (TMB). CGP has come into clinical practice with various guidelines endorsing its clinical utility in various indications, both tumor specificand tumor agnostic. Lung cancer is an excellent example where the role of NGS based comprehensive genomic profiling (CGP) has been recommendedupfront either on tissue or blood (Liquid Biopsy). In ovarian cancer, calculation like LOH or HRD score, based on the tissue NGS, has widen the eligibility ofPARP inhibitor drugs. Further, NTRK fusions, MSI and TMB biomarkers are universal supporting tumor agnostic approach. CGP is a tremendous diagnosticapplication but brings challenges especially interpretation which are affected by intra/inter tumor heterogeneity, identification of multiple drivermutations, multiple targets and treatment options, cross talk of various mutations and genomic signatures, and various signaling pathways, variable variantallele frequency (VAF), cut-offs for various scores like TMB, LOH, HRD. All these challenges are currently overcome by Molecular Tumor Boards, where basicscience understanding in conjunct with clinical experience, has made a huge difference. Thus, offering true precision oncology with unique treatmentoptions for individual patient.
KW  - Precision Oncology
KW  - Personalized Cancer Medicine
KW  - Next Generation Sequencing
KW  - Comprehensive Genomic Profiling
N2  - Basic science technologies and platforms have unraveled the molecular basis of carcinogenesis, both genetic and epigenetic events. Few of the eventswhich are repeatedly observed and are actionable, gave birth to the science “Precision Oncology”. The evolution of molecular testing has made a majorstride in the recent times, and has empowered personalized cancer medicine over the conventional blanket treatment. Among the important diagnostictechnologies, Next Generation Sequencing (NGS) based in-vitro diagnostics have contributed substantially to comprehensive genomic profiling (CGP) inclinical practice that is meant for the detection of substitutions, insertions and deletions (indels), copy number alterations, and gene rearrangements, aswell as genomic signatures including Microsatellite Instability (MSI), Loss of Heterozygosity (LOH), Homologous Recombination Defect (HRD Score), TumorMutation Burden (TMB). CGP has come into clinical practice with various guidelines endorsing its clinical utility in various indications, both tumor specificand tumor agnostic. Lung cancer is an excellent example where the role of NGS based comprehensive genomic profiling (CGP) has been recommendedupfront either on tissue or blood (Liquid Biopsy). In ovarian cancer, calculation like LOH or HRD score, based on the tissue NGS, has widen the eligibility ofPARP inhibitor drugs. Further, NTRK fusions, MSI and TMB biomarkers are universal supporting tumor agnostic approach. CGP is a tremendous diagnosticapplication but brings challenges especially interpretation which are affected by intra/inter tumor heterogeneity, identification of multiple drivermutations, multiple targets and treatment options, cross talk of various mutations and genomic signatures, and various signaling pathways, variable variantallele frequency (VAF), cut-offs for various scores like TMB, LOH, HRD. All these challenges are currently overcome by Molecular Tumor Boards, where basicscience understanding in conjunct with clinical experience, has made a huge difference. Thus, offering true precision oncology with unique treatmentoptions for individual patient.
CR  - Grozescu T, Popa F. Prostate cancer between prognosis and adequate/proper therapy. J Med Life. 2017;10(1):5-12
UR  - https://doi.org/10.26650/JARHS2021-1138049
L1  - https://dergipark.org.tr/en/download/article-file/2516026
ER  -