A framework for transcriptome-wide association studies in breast cancer in diverse study populations.

ABSTRACT:

Background

The relationship between germline genetic variation and breast cancer survival is largely unknown, especially in understudied minority populations who often have poorer survival. Genome-wide association studies (GWAS) have interrogated breast cancer survival but often are underpowered due to subtype heterogeneity and clinical covariates and detect loci in non-coding regions that are difficult to interpret. Transcriptome-wide association studies (TWAS) show increased power in detecting functionally relevant loci by leveraging expression quantitative trait loci (eQTLs) from external reference panels in relevant tissues. However, ancestry- or race-specific reference panels may be needed to draw correct inference in ancestrally diverse cohorts. Such panels for breast cancer

SUBMITTER: Bhattacharya A 

PROVIDER: S-EPMC7033948 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature