SynthesisHuman molecular genetics2016
Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer.
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In one paragraph
Synthesis in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
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54citing papers in PubMed, 6 pooled it
8.7field-weighted citation impact, top 2% of its field
What it found
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Who cites it
54 citing papers in PubMed, 6 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Association of telomerase reverse transcriptase gene rs10069690 variant with cancer risk: an updated meta-analysis.BMC cancer · 2024Pooled it
- Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.Human molecular genetics · 2024Pooled it
- Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status.Breast cancer research : BCR · 2024Pooled it
- Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.Nature communications · 2021Pooled it
- TERT rs10069690 polymorphism and cancers risk: A meta-analysis.Molecular genetics & genomic medicine · 2019Pooled it
- A meta-analysis approach with filtering for identifying gene-level gene-environment interactions.Genetic epidemiology · 2018Pooled it
- Cis-regulatory and long noncoding RNA alterations in breast cancer - current insights, biomarker utility, and the critical need for functional validation.Molecular oncology · 2026Review
- Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.Nature genetics · 2026Article
- The African-Specific Variant in the Duffy Antigen Receptor for Chemokines Gene, CD8+ T-Cell Density, and Aggressive Breast Cancer Subtypes in Black Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Integrative spatial omics reveals distinct tumor-promoting multicellular niches and immunosuppressive mechanisms in Black American and White American patients with TNBC.Nature communications · 2025Article
- Genome-wide association study identifies common variants associated with breast cancer in South African Black women.Nature communications · 2025Article
- Review
- Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer.Cancer research · 2024Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- Response to: Comment on Genetic Ancestry-Specific Molecular and Survival Differences in Admixed Breast Cancer Patients.Annals of surgery open : perspectives of surgical history, education, and clinical approaches · 2024Article
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
- Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium.Breast cancer research : BCR · 2023Article
- Article
- Association of the Telomerase Reverse Transcriptase rs10069690 Polymorphism with the Risk, Age at Onset and Prognosis of Triple Negative Breast Cancer.International journal of molecular sciences · 2023Article
- An enhancer variant associated with breast cancer susceptibility in Black women regulates TNFSF10 expression and antitumor immunity in triple-negative breast cancer.Human molecular genetics · 2023Article
Corrections and comments
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Authors and funding
47 authors at 20 institutions in 4 countries.
Dezheng HuoDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Ye FengDepartment of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Stephen HaddadSlone Epidemiology Center, Boston University, Boston, MA, USA.
Yonglan ZhengCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Song YaoRoswell Park Cancer Institute, Buffalo, NY, USA.
Yoo-Jeong HanCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Temidayo O OgundiranDepartment of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Clement AdebamowoDepartment of Epidemiology & Preventive Medicine, University of Maryland, Baltimore, MD, USA.
Oladosu OjengbedeCenter for Population and Reproductive Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Adeyinka G FalusiInstitute for Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Lisa SignorelloCancer Prevention Fellowship Program, National Cancer Institute, Bethesda, MD, USA.
Esther M JohnDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Leslie BernsteinDivision of Cancer Etiology, Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Jennifer J HuSylvester Comprehensive Cancer Center and Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL, USA.
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MA, USA.
Sarah NyanteDepartment of Epidemiology, Gillings School of Global Public Health, and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA.
Elisa V BanderaThe Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Sue A InglesDepartment of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Michael F PressDepartment of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Sandra L DemingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Jorge L Rodriguez-GilSylvester Comprehensive Cancer Center and Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL, USA.
Katherine L NathansonDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Susan M DomchekDepartment of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Timothy R RebbeckDana Farber Cancer Institute & Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Edward A Ruiz-NarváezSlone Epidemiology Center, Boston University, Boston, MA, USA.
Lara E Sucheston-CampbellColleges of Pharmacy and Veterinary Medicine, Ohio State University, Columbus, OH, USA.
Jeannette T BensenDepartment of Epidemiology, Gillings School of Global Public Health, and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA.
Michael S SimonKarmanos Cancer Institute, Department of Oncology, Wayne State University, Detroit, MI, USA.
Anselm HennisDivision of Cancer Etiology, Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Barbara NemesureDepartment of Preventive Medicine, State University of New York at Stony Brook, Stony Brook, NY, USA.
M Cristina LeskeDepartment of Preventive Medicine, State University of New York at Stony Brook, Stony Brook, NY, USA.
Stefan AmbsLaboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD, USA.
Lin S ChenDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Frank QianCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Eric R GamazonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MA, USA.
Kathryn L LunettaDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Nancy J CoxDivision of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MA, USA.
Laurence N KolonelEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health, and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA.
Christine B AmbrosoneRoswell Park Cancer Institute, Buffalo, NY, USA.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
Vanderbilt University · USUniversity of Chicago · USBoston University · USUNC Lineberger Comprehensive Cancer CenterUniversity of Southern California · USNational Cancer Institute · USUniversity of Ibadan · NGRoswell Park Comprehensive Cancer Center · USState University of New York · USSylvester Comprehensive Cancer Center · USUniversity of Pennsylvania · USAmerican Association of Colleges of Pharmacy · USCancer Genetics (United States) · USCity of Hope · USDana-Farber Cancer Institute · USDivision of Cancer Epidemiology and GeneticsRutgers Cancer Institute of New JerseyStony Brook University · USThe Barbara Ann Karmanos Cancer Institute · USUniversity of Hawaii Cancer Center
Funding
Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI David Darr · 1985 to 2026
$201.5MSouthern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0MTissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MNorthern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4MFOLLOW-UP STUDY FOR CAUSES OF ILLNESS IN BLACK WOMENR01CA058420 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ROSENBERG, LYNN · 1999 to 2013
$20.7MReproduction, Lactation and Hormonal Factors in Breast Cancer SubtypesP01CA151135 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI AMBROSONE, CHRISTINE B., OLSHAN, ANDREW · 2011 to 2017
$18.1MA Follow-up Study for Causes of Cancer in Black WomenUM1CA164974 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ROSENBERG, LYNN · 2012 to 2017
$13.7MVariation in Hormone and xenobiotic metabolizing enzyme genes and breast cancerP50CA125183 · NCI · UNIVERSITY OF CHICAGO · PI COX, NANCY · 2006 to 2010
$11.3MUnderstanding Ethnic Differences in Cancer: The Multiethnic Cohort StudyUM1CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HENDERSON, BRIAN E, LE MARCHAND, LOIC · 2012 to 2014
$11.3MINTEGRATED TRAINING FOR PHYSICIAN-SCIENTISTST32GM008692 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI BURKARD, MARK E · 1998 to 2020
$10.3MNCI NIH HHS K05 CA136967NCI NIH HHS P01 CA151135NCI NIH HHS P30 CA016086NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058420NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA100598NCI NIH HHS R01 CA142996NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA161032NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA164974NIEHS NIH HHS P30 ES010126NIGMS NIH HHS T32 GM008692
Abstract
Multiple breast cancer loci have been identified in previous genome-wide association studies, but they were mainly conducted in populations of European ancestry. Women of African ancestry are more likely to have young-onset and oestrogen receptor (ER) negative breast cancer for reasons that are unknown and understudied. To identify genetic risk factors for breast cancer in women of African descent, we conducted a meta-analysis of two genome-wide association studies of breast cancer; one study consists of 1,657 cases and 2,029 controls genotyped with Illumina’s HumanOmni2.5 BeadChip and the other study included 3,016 cases and 2,745 controls genotyped using Illumina Human1M-Duo BeadChip. The top 18,376 single nucleotide polymorphisms (SNP) from the meta-analysis were replicated in the third study that consists of 1,984 African Americans cases and 2,939 controls. We found that SNP rs13074711, 26.5 Kb upstream of TNFSF10 at 3q26.21, was significantly associated with risk of oestrogen receptor (ER)-negative breast cancer (odds ratio [OR]=1.29, 95% CI: 1.18-1.40; P = 1.8 × 10 − 8). Functional annotations suggest that the TNFSF10 gene may be involved in breast cancer aetiology, but further functional experiments are needed. In addition, we confirmed SNP rs10069690 was the best indicator for ER-negative breast cancer at 5p15.33 (OR = 1.30; P = 2.4 × 10 − 10) and identified rs12998806 as the best indicator for ER-positive breast cancer at 2q35 (OR = 1.34; P = 2.2 × 10 − 8) for women of African ancestry. These findings demonstrated additional susceptibility alleles for breast cancer can be revealed in diverse populations and have important public health implications in building race/ethnicity-specific risk prediction model for breast cancer.
Indexed as
AllelesBlack or African AmericanBlack PeopleBreast NeoplasmsCase-Control StudiesChromosomes, Human, Pair 3FemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideReceptors, EstrogenRisk FactorsTNF-Related Apoptosis-Inducing LigandReceptors, EstrogenTNF-Related Apoptosis-Inducing LigandTNFSF10 protein, human
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