Repository logo

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.

Published version

Thumbnail Image



Change log


Adedokun, Babatunde 
Du, Zhaohui 


Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants.



Humans, Breast Neoplasms, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Introns, African Continental Ancestry Group, European Continental Ancestry Group, Female, Genome-Wide Association Study

Journal Title

Nature communications

Conference Name

Journal ISSN


Volume Title



NCI NIH HHS (P50 CA058223, R03 CA227357, R01 CA089085, R01 CA098663, R01 CA100598, R01 CA063464, K05 CA136967, R01 CA242929, P20 CA233307, R01 CA142996, U01 CA069417, R01 CA058420, R01 CA100374, R01 CA228198, R37 CA054281, UM1 CA164974, P01 CA151135)
Intramural NIH HHS (Z01 ES044005)
NIEHS NIH HHS (P30 ES010126)
NIGMS NIH HHS (T32 GM008692)
Cancer Research UK (C1287/A10118, C1287/A16563)