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Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients

Lung cancer is the world’s leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations in the EGFR gene have better clinical outcomes when trea...

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Autores principales: Kaler, Amrit Kaur, Patel, Khushi, Patil, Harshali, Tiwarekar, Yash, Kulkarni, Bijal, Hastak, Meenal, Athikari, Nivetha, Rane, Samrudhi, Nikam, Ankita, Umarji, Smita, Shaikh, Imran, Goyle, Sandeep, Mistry, Rajesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9819110/
https://www.ncbi.nlm.nih.gov/pubmed/36613084
http://dx.doi.org/10.3390/ijerph20010758
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author Kaler, Amrit Kaur
Patel, Khushi
Patil, Harshali
Tiwarekar, Yash
Kulkarni, Bijal
Hastak, Meenal
Athikari, Nivetha
Rane, Samrudhi
Nikam, Ankita
Umarji, Smita
Shaikh, Imran
Goyle, Sandeep
Mistry, Rajesh
author_facet Kaler, Amrit Kaur
Patel, Khushi
Patil, Harshali
Tiwarekar, Yash
Kulkarni, Bijal
Hastak, Meenal
Athikari, Nivetha
Rane, Samrudhi
Nikam, Ankita
Umarji, Smita
Shaikh, Imran
Goyle, Sandeep
Mistry, Rajesh
author_sort Kaler, Amrit Kaur
collection PubMed
description Lung cancer is the world’s leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations in the EGFR gene have better clinical outcomes when treated with tyrosine kinase inhibitors (TKI). This study expands our knowledge of the spectrum of EGFR mutations among lung cancer patients in the Indian scenario. This is a retrospective descriptive study of all newly diagnosed patients with lung cancer in tertiary care hospital in India. All the samples were subjected to real-time PCR (q-PCR) analysis and confirmation of rare novel mutations was done using Sanger sequencing. Clinicopathological characteristics, mutational EGFR status, and location on the exon and metastatic sites were evaluated. An analysis of total 212 samples showed mutations in 38.67% of cases. Among these, five (5.9%) samples had mutations in exon 18, 41 (48.8%) samples had mutations in exon 19, 12 (14.28%) samples had mutations in exon 20, and 26 (30.95%) samples had mutations in exon 21. Eleven (13.41%) were found to be uncommon EGFR mutations. Additionally, six (21.4%) samples that had EGFR mutations were also positive for brain metastasis. Future testing on bigger panels will help to characterize the incidence of genetic mutations and to determine the appropriate targeted treatment choices for NSCLC patients.
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spelling pubmed-98191102023-01-07 Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients Kaler, Amrit Kaur Patel, Khushi Patil, Harshali Tiwarekar, Yash Kulkarni, Bijal Hastak, Meenal Athikari, Nivetha Rane, Samrudhi Nikam, Ankita Umarji, Smita Shaikh, Imran Goyle, Sandeep Mistry, Rajesh Int J Environ Res Public Health Article Lung cancer is the world’s leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations in the EGFR gene have better clinical outcomes when treated with tyrosine kinase inhibitors (TKI). This study expands our knowledge of the spectrum of EGFR mutations among lung cancer patients in the Indian scenario. This is a retrospective descriptive study of all newly diagnosed patients with lung cancer in tertiary care hospital in India. All the samples were subjected to real-time PCR (q-PCR) analysis and confirmation of rare novel mutations was done using Sanger sequencing. Clinicopathological characteristics, mutational EGFR status, and location on the exon and metastatic sites were evaluated. An analysis of total 212 samples showed mutations in 38.67% of cases. Among these, five (5.9%) samples had mutations in exon 18, 41 (48.8%) samples had mutations in exon 19, 12 (14.28%) samples had mutations in exon 20, and 26 (30.95%) samples had mutations in exon 21. Eleven (13.41%) were found to be uncommon EGFR mutations. Additionally, six (21.4%) samples that had EGFR mutations were also positive for brain metastasis. Future testing on bigger panels will help to characterize the incidence of genetic mutations and to determine the appropriate targeted treatment choices for NSCLC patients. MDPI 2022-12-31 /pmc/articles/PMC9819110/ /pubmed/36613084 http://dx.doi.org/10.3390/ijerph20010758 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kaler, Amrit Kaur
Patel, Khushi
Patil, Harshali
Tiwarekar, Yash
Kulkarni, Bijal
Hastak, Meenal
Athikari, Nivetha
Rane, Samrudhi
Nikam, Ankita
Umarji, Smita
Shaikh, Imran
Goyle, Sandeep
Mistry, Rajesh
Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title_full Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title_fullStr Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title_full_unstemmed Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title_short Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
title_sort mutational analysis of egfr mutations in non-small cell lung carcinoma—an indian perspective of 212 patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9819110/
https://www.ncbi.nlm.nih.gov/pubmed/36613084
http://dx.doi.org/10.3390/ijerph20010758
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