TY - JOUR
T1 - Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women
AU - The GBHS Study Team
AU - Adedokun, Babatunde
AU - Du, Zhaohui
AU - Gao, Guimin
AU - Ahearn, Thomas U.
AU - Lunetta, Kathryn L.
AU - Zirpoli, Gary
AU - Figueroa, Jonine
AU - John, Esther M.
AU - Bernstein, Leslie
AU - Zheng, Wei
AU - Hu, Jennifer J.
AU - Ziegler, Regina G.
AU - Nyante, Sarah
AU - Bandera, Elisa V.
AU - Ingles, Sue A.
AU - Press, Michael F.
AU - Deming-Halverson, Sandra L.
AU - Rodriguez-Gil, Jorge L.
AU - Yao, Song
AU - Ogundiran, Temidayo O.
AU - Ojengbede, Oladosu
AU - Blot, William
AU - Troester, Melissa A.
AU - Nathanson, Katherine L.
AU - Hennis, Anselm
AU - Nemesure, Barbara
AU - Ambs, Stefan
AU - Fiorica, Peter N.
AU - Sucheston-Campbell, Lara E.
AU - Bensen, Jeannette T.
AU - Kushi, Lawrence H.
AU - Torres-Mejia, Gabriela
AU - Hu, Donglei
AU - Fejerman, Laura
AU - Bolla, Manjeet K.
AU - Dennis, Joe
AU - Dunning, Alison M.
AU - Easton, Douglas F.
AU - Michailidou, Kyriaki
AU - Pharoah, Paul D.P.
AU - Wang, Qin
AU - Sandler, Dale P.
AU - Taylor, Jack A.
AU - O’Brien, Katie M.
AU - Kitahara, Cari M.
AU - Falusi, Adeyinka G.
AU - Babalola, Chinedum
AU - Yarney, Joel
AU - Awuah, Baffour
AU - Addai-Wiafe, Beatrice
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85110933194
U2 - 10.1038/s41467-021-24327-x
DO - 10.1038/s41467-021-24327-x
M3 - Article
C2 - 34234117
AN - SCOPUS:85110933194
SN - 2041-1723
VL - 12
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 4198
ER -