Evidence map›Paper›PMID 38263910›Full record

SynthesisHuman molecular genetics2024

Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Heather M Ochs-Balcom, Leah Preus, Zhaohui Du, Robert C Elston, Craig C Teerlink, Guochong Jia, Xingyi Guo, Qiuyin Cai, Jirong Long, Jie Ping and 56 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.7field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

66 authors at 20 institutions in 5 countries.

Heather M Ochs-BalcomDepartment of Epidemiology and Environmental Health, School of Public Health and Health Professions, University at Buffalo, 270 Farber Hall, Buffalo, NY 14214, United States.ORCID 0000-0003-1255-7714
Leah PreusDepartment of Epidemiology and Environmental Health, School of Public Health and Health Professions, University at Buffalo, 270 Farber Hall, Buffalo, NY 14214, United States.
Zhaohui DuDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.
Robert C ElstonDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, United States.
Craig C TeerlinkDepartment of Internal Medicine, University of Utah School of Medicine, 30 North Mario Capecchi Dr, 3rd Floor North, Salt Lake City, UT 84112, United States.
Guochong JiaDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.ORCID 0000-0001-5269-1294
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Bingshan LiDepartment of Molecular Physiology and Biophysics, Vanderbilt University, 707 Light Hall 2215 Garland Avenue, Nashville, TN 37232, United States.
Daniel O StramDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Maureen SandersonDepartment of Family and Community Medicine, Meharry Medical College, 1005 Dr. DB Todd Jr, Blvd. Nashville, TN 37208, United States.
Guimin GaoDepartment of Public Health Sciences, University of Chicago, 5841 S. Maryland Ave., Chicago, IL 60637, United States.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
Kathryn L LunettaDepartment of Biostatistics, Boston University, 715 Albany St, Boston, MA 02118, United States.
Gary ZirpoliSlone Epidemiology Center, Boston University, L-7, 72 East Concord Street, Boston, MA 02118, United States.
Melissa A TroesterDepartment of Epidemiology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, 135 Dauer Drive, CB 7435, Chapel Hill, NC 27599, United States.
Edward A Ruiz-NarváezDepartment of Nutritional Sciences, University of Michigan School of Public Health, 1860 SPH I, 1415 Washington Heights, Ann Arbor, MI 48109, United States.ORCID 0000-0002-0339-5824
Stephen A HaddadSlone Epidemiology Center, Boston University, L-7, 72 East Concord Street, Boston, MA 02118, United States.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
Esther M JohnDepartment of Epidemiology & Population Health, Stanford University School of Medicine, 3145 Porter Dr, Suite E223, MC 5393, Palo Alto, CA 94304, United States.
Leslie BernsteinDivision of Biomarkers of Early Detection and Prevention Department of Population Sciences, Beckman Research Institute of the City of Hope, City of Hope Comprehensive Cancer Center, 1500 East Duarte Road, Duarte, CA 91010, United States.
Jennifer J HuSylvester Comprehensive Cancer Center and Department of Public Health Sciences, University of Miami Miller School of Medicine, 1120 NW 14th St, CRB 1511, Miami, FL 33136, United States.
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
Sarah NyanteDepartment of Radiology, School of Medicine, University of North Carolina at Chapel Hill, 130 Mason Farm Rd., Chapel Hill, NC 27599, United States.
Elisa V BanderaCancer Epidemiology and Health Outcomes, Rutgers Cancer Institute of New Jersey, 120 Albany Street, Tower 2, 8th Floor, New Brunswick, NJ 08903, United States.
Sue A InglesDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.
Nicholas MancusoDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.ORCID 0000-0002-9352-5927
Michael F PressDepartment of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1441 Eastlake Ave., Los Angeles, CA 90033, United States.
Sandra L DemingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Jorge L Rodriguez-GilGenomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Dr, Bethesda, MD 20894, United States.ORCID 0000-0002-1125-1281
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, United States.
Temidayo O OgundiranDepartment of Surgery, College of Medicine, University of Ibadan, Queen Elizabeth II Road, Ibadan, 200285, Nigeria.
Oladosu OjengbedeCenter for Population and Reproductive Health, College of Medicine, University of Ibadan, UCH, Queen Elizabeth II Road, Ibadan, 200285, Nigeria.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, 2 Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, 2 Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom.ORCID 0000-0001-6651-7166
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Iroon Avenue 6, 2371 Ayius Dometios, Nicosia, Cyprus.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, PO Box 12233, Research Triangle Park, NC 27709, United States.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, PO Box 12233, Research Triangle Park, NC 27709, United States.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, 2 Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, PO Box 12233, Research Triangle Park, NC 27709, United States.
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, PO Box 12233, Research Triangle Park, NC 27709, United States.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, The Perelman School of Medicine at the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19140, United States.
Anselm HennisChronic Disease Research Centre and Faculty of Medical Sciences, University of the West Indies, Jemmotts Lane, Avalon, Bridgetown, Barbados.
Barbara NemesureDepartment of Family, Population and Preventive Medicine, Stony Brook University, 100 Nicolls Road, Stony Brook, NY 11794, United States.
Stefan AmbsLaboratory of Human Carcinogenesis, National Cancer Institute, 37 Convent Drive, Bethesda, MD 20892, United States.
Lara E Sucheston-CampbellCollege of Pharmacy, The Ohio State University, 217 Lloyd M. Parks Hall, 500 West 12th Ave., Columbus, OH 43210, United States.
Jeannette T BensenDepartment of Epidemiology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, 135 Dauer Drive, CB 7435, Chapel Hill, NC 27599, United States.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, 170 Rosenau Hall, CB #7400, 135 Dauer Drive, Chapel Hill, NC 27599, United States.
Christine B AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, United States.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, 5841 S Maryland Avenue, Chicago, IL 60637, United States.
The Ghana Breast Health Study Team
David V ContiDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.
Julie PalmerSlone Epidemiology Center, Boston University, L-7, 72 East Concord Street, Boston, MA 02118, United States.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, United States.
Dezheng HuoDepartment of Public Health Sciences, University of Chicago, 5841 S. Maryland Ave., Chicago, IL 60637, United States.ORCID 0000-0002-4041-1678
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, Nashville, TN 37203, United States.
Christopher HaimanDepartment of Preventive Population and Public Health Sciences, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, 1450 Biggy Street, Los Angeles, CA 90033, United States.
National Institutes of Health · USVanderbilt University · USUniversity of Southern California · USUniversity of Cambridge · GBBoston University · USUniversity of North Carolina at Chapel Hill · USChicago Department of Public Health · USNational Cancer Institute · USRoswell Park Comprehensive Cancer Center · USUniversity at Buffalo, State University of New York · USUniversity of Ibadan · NGCase Western Reserve University · USCity of Hope · USCyprus Institute of Neurology and Genetics · CYMeharry Medical College · USRutgers, The State University of New Jersey · USStanford University · USStony Brook University · USThe Ohio State University · USUniversity of Chicago · US

Funding

Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KATHERINE A. HOADLEY · 2001 to 2026
$36.3M
A Follow-up Study for Causes of Cancer in Black WomenU01CA164974 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Kimberly A. Bertrand, Yvette C Cozier · 2017 to 2026
$24.0M
Environmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7M
Reproduction, Lactation and Hormonal Factors in Breast Cancer SubtypesP01CA151135 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI AMBROSONE, CHRISTINE B., OLSHAN, ANDREW · 2011 to 2017
$18.1M
Breast Cancer genetic study in African-ancestry populationsR01CA202981 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Wei Zheng · 2016 to 2026
$14.1M
Novel Markers for Disease Outcome in Breast CancerZIABC010887 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI AMBS, STEFAN · 2009 to 2025
$11.5M
The Two Sister StudyZIAES102245 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 2009 to 2025
$8.6M
Gene Polymorphisms in Relation to Cancer in Black WomenR01CA098663 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI PALMER, JULIE R · 2003 to 2012
$5.3M
Leveraging Prospective Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk ScoresU01CA261339 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fei Chen, David V Conti · 2021 to 2026
$5.2M
Race &Risk Factors for Early/Aggressive Breast CancerR01CA100598 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI AMBROSONE, CHRISTINE B. · 2004 to 2008
$4.8M
The Nashville Breast Health StudyR01CA100374 · NCI · VANDERBILT UNIVERSITY · PI ZHENG, WEI · 2004 to 2009
$4.2M
Intramural NIH HHS Z01 ES044005NCI NIH HHS P01 CA151135NCI NIH HHS P20 CA233307NCI NIH HHS P50 CA058223NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA100598NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA228198NCI NIH HHS R01-CA228198NCI NIH HHS R01 CA242929NCI NIH HHS R03 CA227357NCI NIH HHS U01 CA164974NCI NIH HHS U01 CA261339NCI NIH HHS UH2 CA227608NIEHS NIH HHS P30 ES010126NIEHS NIH HHS Z01-ES044005NIH HHS UH2-CA227608
6 · The paper itself

Abstract

backgroundExpansion of genome-wide association studies across population groups is needed to improve our understanding of shared and unique genetic contributions to breast cancer. We performed association and replication studies guided by a priori linkage findings from African ancestry (AA) relative pairs.

methodsWe performed fixed-effect inverse-variance weighted meta-analysis under three significant AA breast cancer linkage peaks (3q26-27, 12q22-23, and 16q21-22) in 9241 AA cases and 10 193 AA controls. We examined associations with overall breast cancer as well as estrogen receptor (ER)-positive and negative subtypes (193,132 SNPs). We replicated associations in the African-ancestry Breast Cancer Genetic Consortium (AABCG).

resultsIn AA women, we identified two associations on chr12q for overall breast cancer (rs1420647, OR = 1.15, p = 2.50×10-6; rs12322371, OR = 1.14, p = 3.15×10-6), and one for ER-negative breast cancer (rs77006600, OR = 1.67, p = 3.51×10-6). On chr3, we identified two associations with ER-negative disease (rs184090918, OR = 3.70, p = 1.23×10-5; rs76959804, OR = 3.57, p = 1.77×10-5) and on chr16q we identified an association with ER-negative disease (rs34147411, OR = 1.62, p = 8.82×10-6). In the replication study, the chr3 associations were significant and effect sizes were larger (rs184090918, OR: 6.66, 95% CI: 1.43, 31.01; rs76959804, OR: 5.24, 95% CI: 1.70, 16.16).

conclusionThe two chr3 SNPs are upstream to open chromatin ENSR00000710716, a regulatory feature that is actively regulated in mammary tissues, providing evidence that variants in this chr3 region may have a regulatory role in our target organ. Our study provides support for breast cancer variant discovery using prioritization based on linkage evidence.

Indexed as

Black PeopleBreast NeoplasmsGenetic Predisposition to DiseaseFemaleGenome-Wide Association StudyHumansPolymorphism, Single NucleotideAfrican ancestrybreast cancerfine mappingmeta-GWAS

Identifiers

PMID38263910
PMCPMC11000665
OpenAlexW4391173401

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.