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A Framework for Transcriptome-Wide Association Studies in Breast Cancer in Diverse Study Populations

Citation

Bhattacharya, Arjun; García-Closas, Montserrat; Olshan, Andrew F.; Perou, Charles M.; Troester, Melissa A.; & Love, Michael I. (2020). A Framework for Transcriptome-Wide Association Studies in Breast Cancer in Diverse Study Populations. Genome Biology, 21, 42. PMCID: PMC7033948

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 are lacking.

URL

http://dx.doi.org/10.1186/s13059-020-1942-6

Reference Type

Journal Article

Journal Title

Genome Biology

Author(s)

Bhattacharya, Arjun
García-Closas, Montserrat
Olshan, Andrew F.
Perou, Charles M.
Troester, Melissa A.
Love, Michael I.

Year Published

2020

Volume Number

21

Pages

42

PMCID

PMC7033948

Reference ID

13061