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Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa
Genome-wide association studies (GWAS) are useful in assessing and analyzing either differences or variations in DNA sequences across the human genome to detect genetic risk factors of diseases prevalent within a target population under study. The ultimate goal of GWAS is to predict either disease r...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461549/ https://www.ncbi.nlm.nih.gov/pubmed/32823908 http://dx.doi.org/10.3390/ijms21165835 |
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author | Jurj, Maria-Ancuta Buse, Mihail Zimta, Alina-Andreea Paradiso, Angelo Korban, Schuyler S. Pop, Laura-Ancuta Berindan-Neagoe, Ioana |
author_facet | Jurj, Maria-Ancuta Buse, Mihail Zimta, Alina-Andreea Paradiso, Angelo Korban, Schuyler S. Pop, Laura-Ancuta Berindan-Neagoe, Ioana |
author_sort | Jurj, Maria-Ancuta |
collection | PubMed |
description | Genome-wide association studies (GWAS) are useful in assessing and analyzing either differences or variations in DNA sequences across the human genome to detect genetic risk factors of diseases prevalent within a target population under study. The ultimate goal of GWAS is to predict either disease risk or disease progression by identifying genetic risk factors. These risk factors will define the biological basis of disease susceptibility for the purposes of developing innovative, preventative, and therapeutic strategies. As single nucleotide polymorphisms (SNPs) are often used in GWAS, their relevance for triple negative breast cancer (TNBC) will be assessed in this review. Furthermore, as there are different levels and patterns of linkage disequilibrium (LD) present within different human subpopulations, a plausible strategy to evaluate known SNPs associated with incidence of breast cancer in ethnically different patient cohorts will be presented and discussed. Additionally, a description of GWAS for TNBC will be presented, involving various identified SNPs correlated with miRNA sites to determine their efficacies on either prognosis or progression of TNBC in patients. Although GWAS have identified multiple common breast cancer susceptibility variants that individually would result in minor risks, it is their combined effects that would likely result in major risks. Thus, one approach to quantify synergistic effects of such common variants is to utilize polygenic risk scores. Therefore, studies utilizing predictive risk scores (PRSs) based on known breast cancer susceptibility SNPs will be evaluated. Such PRSs are potentially useful in improving stratification for screening, particularly when combining family history, other risk factors, and risk prediction models. In conclusion, although interpretation of the results from GWAS remains a challenge, the use of SNPs associated with TNBC may elucidate and better contextualize these studies. |
format | Online Article Text |
id | pubmed-7461549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74615492020-09-04 Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa Jurj, Maria-Ancuta Buse, Mihail Zimta, Alina-Andreea Paradiso, Angelo Korban, Schuyler S. Pop, Laura-Ancuta Berindan-Neagoe, Ioana Int J Mol Sci Review Genome-wide association studies (GWAS) are useful in assessing and analyzing either differences or variations in DNA sequences across the human genome to detect genetic risk factors of diseases prevalent within a target population under study. The ultimate goal of GWAS is to predict either disease risk or disease progression by identifying genetic risk factors. These risk factors will define the biological basis of disease susceptibility for the purposes of developing innovative, preventative, and therapeutic strategies. As single nucleotide polymorphisms (SNPs) are often used in GWAS, their relevance for triple negative breast cancer (TNBC) will be assessed in this review. Furthermore, as there are different levels and patterns of linkage disequilibrium (LD) present within different human subpopulations, a plausible strategy to evaluate known SNPs associated with incidence of breast cancer in ethnically different patient cohorts will be presented and discussed. Additionally, a description of GWAS for TNBC will be presented, involving various identified SNPs correlated with miRNA sites to determine their efficacies on either prognosis or progression of TNBC in patients. Although GWAS have identified multiple common breast cancer susceptibility variants that individually would result in minor risks, it is their combined effects that would likely result in major risks. Thus, one approach to quantify synergistic effects of such common variants is to utilize polygenic risk scores. Therefore, studies utilizing predictive risk scores (PRSs) based on known breast cancer susceptibility SNPs will be evaluated. Such PRSs are potentially useful in improving stratification for screening, particularly when combining family history, other risk factors, and risk prediction models. In conclusion, although interpretation of the results from GWAS remains a challenge, the use of SNPs associated with TNBC may elucidate and better contextualize these studies. MDPI 2020-08-14 /pmc/articles/PMC7461549/ /pubmed/32823908 http://dx.doi.org/10.3390/ijms21165835 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Jurj, Maria-Ancuta Buse, Mihail Zimta, Alina-Andreea Paradiso, Angelo Korban, Schuyler S. Pop, Laura-Ancuta Berindan-Neagoe, Ioana Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title | Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title_full | Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title_fullStr | Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title_full_unstemmed | Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title_short | Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa |
title_sort | critical analysis of genome-wide association studies: triple negative breast cancer quae exempli causa |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461549/ https://www.ncbi.nlm.nih.gov/pubmed/32823908 http://dx.doi.org/10.3390/ijms21165835 |
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