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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

作者信息

G Vigneshwaran, Hasan Qurratulain Annie, Kumar Rahul, Eranki Avinash

机构信息

Department of Biomedical Engineering, Indian Institute of Technology Hyderabad, Hyderabad, Telangana, India.

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, Telangana, India.

出版信息

Front Genet. 2022 Dec 6;13:1071352. doi: 10.3389/fgene.2022.1071352. eCollection 2022.


DOI:10.3389/fgene.2022.1071352
PMID:36561320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9763624/
Abstract

Triple-negative breast cancer (TNBC) is a rare variant of breast cancer (BC) known to be aggressive and refractory. TNBC lacks effective early diagnostic and therapeutic options leading to poorer outcomes. The genomic landscape and alterations leading to BC and TNBC are vast and unclear. Single nucleotide polymorphisms (SNPs) are a widespread form of genetic alterations with a multi-faceted impact on multiple diseases, including BC and TNBC. In this study, we attempted to construct a framework that could identify genes associated with TNBC and screen the SNPs reported in these genes using a set of computational predictors. This framework helped identify and as recurrent genes associated with TNBC. We found 2%-29% of reported SNPs across genes to be typed pathogenic by all the predictors in the framework. We demonstrate that our framework prediction on BC samples identifies 99% of alterations as pathogenic by at least one predictor and 32% as pathogenic by all the predictors. Our framework could be an initial step in developing an early diagnosis of TNBC and potentially help improve the understanding of therapeutic resistance and sensitivity.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/761cb30e9b48/fgene-13-1071352-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/9eb428975dc2/fgene-13-1071352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/1fef0a069ade/fgene-13-1071352-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/9dcac79b2db5/fgene-13-1071352-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/16dbefbea6be/fgene-13-1071352-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/761cb30e9b48/fgene-13-1071352-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/9eb428975dc2/fgene-13-1071352-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/1fef0a069ade/fgene-13-1071352-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/9dcac79b2db5/fgene-13-1071352-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/16dbefbea6be/fgene-13-1071352-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68b7/9763624/761cb30e9b48/fgene-13-1071352-g005.jpg

相似文献

[1]
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Front Genet. 2022-12-6

[2]
Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Diagnostics (Basel). 2021-3-1

[3]
Clinical genomic profiling to identify actionable alterations for very early relapsed triple-negative breast cancer patients in the Chinese population.

Ann Med. 2021-12

[4]
Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.

Breast Cancer Res. 2012-11-2

[5]
, , and genetic profile in Moroccan triple negative breast cancer cases.

Int J Mol Epidemiol Genet. 2020-6-15

[6]
Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.

Mol Biol Rep. 2022-4

[7]
Characterizations of Cancer Gene Mutations in Chinese Metastatic Breast Cancer Patients.

Front Oncol. 2020-6-30

[8]
Detection of PIK3/AKT pathway in Moroccan population with triple negative breast cancer.

BMC Cancer. 2018-9-18

[9]
Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.

Oncotarget. 2016-3-1

[10]
Feline mammary basal-like adenocarcinomas: a potential model for human triple-negative breast cancer (TNBC) with basal-like subtype.

BMC Cancer. 2013-9-3

引用本文的文献

[1]
A computational and structural approach to identify malignant non-synonymous FOXM1 single nucleotide polymorphisms in triple-negative breast cancer.

Sci Rep. 2025-1-6

[2]
The Genomic and Biologic Landscapes of Breast Cancer and Racial Differences.

Int J Mol Sci. 2024-12-7

本文引用的文献

[1]
A comprehensive in Silico analysis of the functional and structural impact of single nucleotide polymorphisms (SNPs) in the human IL-33 gene.

Comput Biol Chem. 2021-10

[2]
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.

Sci Rep. 2021-5-27

[3]
In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.

Biochem Genet. 2021-12

[4]
Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer.

PLoS One. 2020-9-4

[5]
Combination of thermally ablative focused ultrasound with gemcitabine controls breast cancer via adaptive immunity.

J Immunother Cancer. 2020-8

[6]
SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update).

Nucleic Acids Res. 2020-7-2

[7]
BRCAness as an Important Prognostic Marker in Patients with Triple-Negative Breast Cancer Treated with Neoadjuvant Chemotherapy: A Multicenter Retrospective Study.

Diagnostics (Basel). 2020-2-21

[8]
Computational determination of human PPARG gene: SNPs and prediction of their effect on protein functions of diabetic patients.

Clin Transl Med. 2020-2-17

[9]
Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

PLoS One. 2020-1-23

[10]
High-Intensity Focused Ultrasound (HIFU) Triggers Immune Sensitization of Refractory Murine Neuroblastoma to Checkpoint Inhibitor Therapy.

Clin Cancer Res. 2020-3-1

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