A Swedish Familial Genome-Wide Haplotype Analysis Identified Five Novel Breast Cancer Susceptibility Loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31.

ABSTRACT: Most breast cancer heritability is unexplained. We hypothesized that analysis of unrelated familial cases in a GWAS context could enable the identification of novel susceptibility loci. In order to examine the association of a haplotype with breast cancer risk, we performed a genome-wide haplotype association study using a sliding window analysis of window sizes 1-25 SNPs in 650 familial invasive breast cancer cases and 5021 controls. We identified five novel risk loci on 9p24.3 (OR 3.4; p 4.9 × 10^-11), 11q22.3 (OR 2.4; p 5.2 × 10^-9), 15q11.2 (OR 3.6; p 2.3 × 10^-8), 16q24.1 (OR 3; p 3 × 10^-8) and Xq21.31 (OR 3.3; p 1.7 × 10^-8) and confirmed three well-known loci on 10q25.13, 11q13.3, and 16q12.1. In t

SUBMITTER: Barnekow E 

PROVIDER: S-EPMC10003706 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature