VL Ramprasad

Generation of a CRISPR/Cas9-corrected Isogenic Control iPSC Line (NIMHi001-A-1) from a Parkinson's Disease Patient-Derived iPSC Line Carrying the LRRK2 I1371V Mutation

R Banerjee, K Kumar Singh, Ujaswini Gogoi, VL Ramprasad et autres

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Genome-wide polygenic risk score in premature coronary artery disease in India

Ravi Gupta, Rammurthy Anjanappa, R Menon, M A Venkata et autres

Abstract Background & Objective Premature coronary artery disease (CAD) is an important problem in developing countries. This study was performed to identify the importance of South Asia-specific genome-wide polygenic risk score (GPRS) for risk assessment in patients with angiographically confirmed CAD in …

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Progressive Supranuclear Palsy in India: Past, Present, and Future

Srinivas Raju, Kuldeep Shetty, Lulup Kumar Sahoo, Vijayashankar Paramanandam et autres

Progressive supranuclear palsy (PSP) has emerged as a key area of interest among researchers worldwide, including those in India, who have actively studied the disorder over the past several decades. This review meticulously explores the extensive range of Indian research on PSP …

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Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India

Abhenil Mittal, S. V. S. Deo, Ajay Gogia, Atul Batra et autres

Background: The spectrum and significance of Variants of Uncertain Significance (VUS) mutations in breast cancer predisposition genes is poorly defined in the Indian population. Methods: All new female breast cancer patients from 1 March 2019 to 28 February 2020 were screened. Those …

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Comprehensive Germline Genomic Profiling of Patients with Ovarian Cancer: A Cross-Sectional Study

Raja Pramanik, Avinash Upadhyay, Sachin Khurana, Lalit Kumar et autres

Abstract Introduction Ovarian cancer is the third most common cancer among Indian women. The data on the hereditary predisposition of these cancers and the clinical outcomes of those with pathogenic mutations is meager in India. Objective The aim of the current study …

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ASO Visual Abstract: Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center

Abhenil Mittal, S. V. S. Deo, Ajay Gogia, Atul Batra et autres

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Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center

Abhenil Mittal, S. V. S. Deo, Ajay Gogia, Atul Batra et autres

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61 Tumor mutational burden assessments by two commercial targeted sequencing assays

Ruchi Chaudhary, Gitanjali Vaidya, Meeta Sunil, SM Sakthivel Murugan et autres

Background Tumor mutational burden (TMB) is a key biomarker for immune checkpoint inhibitor across several cancer types. While TMB as calculated from whole exome sequencing of the tumor tissue is still the gold standard, enabling TMB in clinical labs requires targeted sequencing …

Genomic profile at diagnosis by targeted high throughput sequencing, and real-world clinical outcomes in patients diagnosed with acute myeloid leukemia at a tertiary care cancer center.

Vivek Sulekha Radhakrishnan, Arunima Bhaduri, Neeraj Arora, Reena Nair et autres

e19515 Background: Acute Myeloid Leukemia (AML) is a highly heterogeneous disease. High throughput sequencing (HTS) has led to the discovery of a number of recurrently mutated genes in AML & has provided a detailed molecular landscape of the disease. This information is …

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Tumor mutational burden and spectrum in hormone receptor-positive breast cancer patients from India.

Sachin Minhas, Sunita Bhalla, Vidya Harini Veldore, Madhusudan Ganvir et autres

e12524 Background: Breast cancer is the most common type of cancer found in females in India. Moreover, more than 50% of the breast cancers in India are found to be hormone receptor positive (HR+). In this research we calculated the Tumor Mutational …

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A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity

Snigdha Majumder, Rakshit Shah, Jisha Elias, Yogesh Mistry et autres

Familial adenomatous polyposis (FAP) is an inherited condition arising from genetic defects in the Adenomatous polyposis coli (APC) gene. Carriers with mutations in the APC gene develop polyps in the colon and rectum which if not managed, transition into colon cancer. In …

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Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India

Ishwar C. Verma, Ratna Dua Puri, Eswarachary Venkataswamy, Tulika Tayal et autres

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