An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer

Genome-wide association studies (GWAS) have successfully identified genetic variants associated with risk for breast cancer. However, the molecular mechanisms through which the identified variants confer risk or influence phenotypic expression remains poorly understood. Here, we present a novel inte...

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Main Authors: Chindo Hicks, Rozana Asfour, Antonio Pannuti, Lucio Miele
Format: Article
Language:English
Published: SAGE Publishing 2011-01-01
Series:Cancer Informatics
Online Access:https://doi.org/10.4137/CIN.S6837
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author Chindo Hicks
Rozana Asfour
Antonio Pannuti
Lucio Miele
author_facet Chindo Hicks
Rozana Asfour
Antonio Pannuti
Lucio Miele
author_sort Chindo Hicks
collection DOAJ
description Genome-wide association studies (GWAS) have successfully identified genetic variants associated with risk for breast cancer. However, the molecular mechanisms through which the identified variants confer risk or influence phenotypic expression remains poorly understood. Here, we present a novel integrative genomics approach that combines GWAS information with gene expression data to assess the combined contribution of multiple genetic variants acting within genes and putative biological pathways, and to identify novel genes and biological pathways that could not be identified using traditional GWAS. The results show that genes containing SNPs associated with risk for breast cancer are functionally related and interact with each other in biological pathways relevant to breast cancer. Additionally, we identified novel genes that are co-expressed and interact with genes containing SNPs associated with breast cancer. Integrative analysis combining GWAS information with gene expression data provides functional bridges between GWAS findings and biological pathways involved in breast cancer.
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spelling doaj.art-43a61e3592464ed0a11b77f87d1f3d682022-12-22T01:04:49ZengSAGE PublishingCancer Informatics1176-93512011-01-011010.4137/CIN.S6837An Integrative Genomics Approach to Biomarker Discovery in Breast CancerChindo Hicks0Rozana Asfour1Antonio Pannuti2Lucio Miele3Cancer Institute, University of Mississippi Medical Center, 2500 N. State Street, Jackson, MS, USA.Stritch School of Medicine, Loyola University Medical Center, Maywood, IL, USA.Cancer Institute, University of Mississippi Medical Center, 2500 N. State Street, Jackson, MS, USA.Cancer Institute, University of Mississippi Medical Center, 2500 N. State Street, Jackson, MS, USA.Genome-wide association studies (GWAS) have successfully identified genetic variants associated with risk for breast cancer. However, the molecular mechanisms through which the identified variants confer risk or influence phenotypic expression remains poorly understood. Here, we present a novel integrative genomics approach that combines GWAS information with gene expression data to assess the combined contribution of multiple genetic variants acting within genes and putative biological pathways, and to identify novel genes and biological pathways that could not be identified using traditional GWAS. The results show that genes containing SNPs associated with risk for breast cancer are functionally related and interact with each other in biological pathways relevant to breast cancer. Additionally, we identified novel genes that are co-expressed and interact with genes containing SNPs associated with breast cancer. Integrative analysis combining GWAS information with gene expression data provides functional bridges between GWAS findings and biological pathways involved in breast cancer.https://doi.org/10.4137/CIN.S6837
spellingShingle Chindo Hicks
Rozana Asfour
Antonio Pannuti
Lucio Miele
An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
Cancer Informatics
title An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
title_full An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
title_fullStr An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
title_full_unstemmed An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
title_short An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer
title_sort integrative genomics approach to biomarker discovery in breast cancer
url https://doi.org/10.4137/CIN.S6837
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