As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale.
View Article and Find Full Text PDFThe B-cell lymphoma-2 (Bcl-2) family of proteins plays a vital role in tumorigenesis. Cancer cells utilize the expression of Bcl-2 to evade therapy and develop resistance. Bcl-2 overexpression also causes cancer cells to be more invasive and metastatic.
View Article and Find Full Text PDFBackground: Programmed Death Ligand 1 (PD-L1) expression in tumor cells contribute to tumor immunity and therapies directed against it, have shown encouraging results in recent years. As there is limited data on the significance of PD-L1 expression in Head and Neck Squamous Cell Carcinoma (HNSCC) from India, we aimed to study the PD-L1 expression and its relation with different clinic-pathological parameters in patients of HNSCC from a tertiary care center in Eastern India.
Methods: A prospective evaluation of HNSCC patients diagnosed and managed at our center over a period of two and half years, was performed.
Unlabelled: Cancer cells exploit the expression of anti-apoptotic protein Bcl-2 to evade apoptosis and develop resistance to therapeutics. High levels of Bcl-2 leads to sequestration of pro-apoptotic proteins causing the apoptotic machinery to halt. In this study, we report discovery of a small molecule, BFC1108 (5-chloro-N-(2-ethoxyphenyl)-2-[(4-methoxybenzyol)amino]benzamide), which targets Bcl-2 and converts it into a pro-apoptotic protein.
View Article and Find Full Text PDFBackground: Targeted therapies against programmed death ligand-1 (PD-L1) in non-small cell lung cancer (NSCLC) have revolutionized the management in recent years. There is paucity of data on the significance of PD-L1 expression in NSCLC from India. We aimed to study the prevalence of PD-L1 expression and its relation with different clinico-pathological parameters in advanced NSCLC from a tertiary care center in Eastern India.
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