TY  - JOUR
AU  - Hayat, Mahtaab
AU  - Chen, Wenlong C
AU  - Babb de Villiers, Chantal
AU  - Hyuck Lee, Sang
AU  - Curtis, Charles
AU  - Newton, Rob
AU  - Waterboer, Tim
AU  - Sitas, Freddy
AU  - Bradshaw, Debbie
AU  - Muchengeti, Mazvita
AU  - Singh, Elvira
AU  - Lewis, Cathryn M
AU  - Ramsay, Michele
AU  - Mathew, Christopher G
AU  - Brandenburg, Jean-Tristan
TI  - Genome-wide association study identifies common variants associated with breast cancer in South African Black women.
JO  - Nature Communications
VL  - 16
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Springer Nature
M1  - DKFZ-2025-00794
SP  - 3542
PY  - 2025
AB  - Genome-wide association studies (GWAS) have characterized the contribution of common variants to breast cancer (BC) risk in populations of European ancestry, however GWAS have not been reported in resident African populations. This GWAS included 2485 resident African BC cases and 1101 population matched controls. Two risk loci were identified, located between UNC13C and RAB27A on chromosome 15 (rs7181788, p = 1.01 × 10-08) and in USP22 on chromosome 17 (rs899342, p = 4.62 × 10-08). Several genome-wide significant signals were also detected in hormone receptor subtype analysis. The novel loci did not replicate in BC GWAS data from populations of West Africa ancestry suggesting genetic heterogeneity in different African populations, but further validation of these findings is needed. A European ancestry derived polygenic risk model for BC explained only 0.79
KW  - Humans
KW  - Breast Neoplasms: genetics
KW  - Breast Neoplasms: ethnology
KW  - Female
KW  - Genome-Wide Association Study
KW  - Black People: genetics
KW  - Genetic Predisposition to Disease
KW  - Polymorphism, Single Nucleotide
KW  - South Africa
KW  - Middle Aged
KW  - Adult
KW  - Case-Control Studies
KW  - White People: genetics
KW  - Thiolester Hydrolases: genetics
KW  - rab GTP-Binding Proteins: genetics
KW  - Chromosomes, Human, Pair 17: genetics
KW  - Multifactorial Inheritance
KW  - Thiolester Hydrolases (NLM Chemicals)
KW  - rab GTP-Binding Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40229280
DO  - DOI:10.1038/s41467-025-58789-0
UR  - https://inrepo02.dkfz.de/record/300360
ER  -