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International Journal of Scientific Development and Research - IJSDR
(An International Open Access Journal)
ISSN:
2455-2631


Issue: January 2022

Volume 7 | Issue 1

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Paper Title: In-Silico Evaluation of the Missense Mutations of KMT2C Gene in Breast Cancer
Authors Name: Ankitha V , Sailakshmi Iyer
Unique Id: IJSDR2111022
Published In: Volume 6 Issue 11, November-2021
Abstract: Breast cancer is the second most diagnosed cancer in women globally. More than 5 to 10% of the breast cancer cases are due to inherited gene mutations in genes such as BRCA1, BRCA2, KMT2C, PTEN, etc. Various studies have reported the involvement of the KMT2C gene in breast cancer but is still unclear. Early detection and proper medical care intervention are the keys to a longer survival rate. However, several studies and clinical trials are underway in identifying a potential cure for breast cancer and its subtypes. The focus of the study was to evaluate missense mutations of the KMT2C gene specific for breast cancer. Methodology— The evaluation of the missense mutations of the KMT2C gene-specific for breast cancer was done using various openly accessible bioinformatics tools such as COSMIC, UniProt PredictSNP, I-Mutant Suite, ConSurf, fathmm, and Align GVGD. Result— The study was successful in identifying the top 3 missense mutations out of the list of mutations retrieved that interfere with the function of the protein encoded by the KMT2C gene.
Keywords: Missense mutations, Breast Cancer, COSMIC, KMT2C
Cite Article: "In-Silico Evaluation of the Missense Mutations of KMT2C Gene in Breast Cancer", International Journal of Science & Engineering Development Research (www.ijsdr.org), ISSN:2455-2631, Vol.6, Issue 11, page no.105 - 111, November-2021, Available :http://www.ijsdr.org/papers/IJSDR2111022.pdf
Downloads: 00075628
Publication Details: Published Paper ID: IJSDR2111022
Registration ID:193722
Published In: Volume 6 Issue 11, November-2021
DOI (Digital Object Identifier):
Page No: 105 - 111
Publisher: IJSDR | www.ijsdr.org
ISSN Number: 2455-2631

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