Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

ABSTRACT:

Background

Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods

We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.

Results

In European ancestry samples, 14 gen

SUBMITTER: Mueller SH 

PROVIDER: S-EPMC9878779 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature