ArticleNature communications2014
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
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In one paragraph
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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97citing papers in PubMed, 2 pooled it
11.2field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
97 citing papers in PubMed, 2 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Pooled it
- Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.Genome medicine · 2023Pooled it
- A pilot randomized trial of an educational intervention to increase genetic counseling and genetic testing among Latina breast cancer survivors.Journal of genetic counseling · 2021Trial
- Genetic Variation in Steroid and Xenobiotic Metabolizing Pathways and Enterolactone Excretion Before and After Flaxseed Intervention in African American and European American Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Trial
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- Breast Cancer-Protective Genetic Variant Common in Women of Indigenous American Genetic Ancestry Is a cis-eQTL for RMND1, ARMT1, and CCDC170 in HER2-Enriched Tumor Subtypes.Cancer research communications · 2026Article
- Breast cancer mortality in Argentina, 1991-2023: a nationwide ecological study of spatiotemporal patterns and regional inequalities.Lancet regional health. Americas · 2026Article
- Article
- Cell-type aware transcriptome-wide association study of mammographic density phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetic ancestry influences body shape and obesity risk in Latin American populations.Scientific reports · 2025Article
- Article
- Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Nature communications · 2025Article
- Genetic Ancestry, Intrinsic Tumor Subtypes, and Breast Cancer Survival in Latin American Women.Cancer research communications · 2025Article
- Genomic landscape of cancer in racially and ethnically diverse populations.Nature reviews. Genetics · 2025Review
- Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.Nature genetics · 2025Observational
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.Breast cancer research and treatment · 2024Article
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 19 institutions in 4 countries.
Laura FejermanDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
Nasim AhmadiyehDepartment of Surgery, University of California San Francisco, San Francisco, California 94122, USA.
Donglei HuDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
Scott HuntsmanDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
Kenneth B BeckmanUniversity of Minnesota Genomics Center, Minneapolis, Minnesota 55455, USA.
Jennifer L CaswellDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
Karen TsungDepartment of Surgery, University of California San Francisco, San Francisco, California 94122, USA.
Esther M John1] Cancer Prevention Institute of California, Fremont, California 94538, USA [2] Division of Epidemiology, Department of Health Research and Policy, Stanford Cancer Institute, Stanford University School of Medicine, Palo Alto, California 94305, USA.
Gabriela Torres-MejiaNational Institute of Public Health, Cuernavaca 62100, Mexico.
Luis Carvajal-Carmona1] Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, California 95616, USA [2] Research Group, Citogenética Filogenia y Evolución de Poblaciones, University of Tolima, Ibagué 7652000, Colombia.
María Magdalena EcheverryDepartment of Biochemistry and Molecular Medicine, University of California Davis, Davis, California 95616, USA.
Anna Marie D TuazonDepartment of Biochemistry and Molecular Medicine, University of California Davis, Davis, California 95616, USA.
Carolina RamirezResearch Group, Citogenética Filogenia y Evolución de Poblaciones, University of Tolima, Ibagué 7652000, Colombia.
COLUMBUS Consortium
Christopher R GignouxDepartment of Genetics, Stanford University, Palo Alto, California 94305, USA.
Celeste EngDivision of Pulmonary and Critical Care, Department of Medicine, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94158, USA.
Esteban Gonzalez-BurchardDivision of Pulmonary and Critical Care, Department of Medicine, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94158, USA.
Brian HendersonDepartment of Preventive Medicine, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Loic Le MarchandUniversity of Hawaii Cancer Center, Honolulu, Hawaii 96813, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Lifang HouDepartment of Preventive Medicine, Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA.
Ilir AgalliuDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Sara LindströmProgram in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Eliseo J Perez-StableDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
Christopher A HaimanDepartment of Preventive Medicine, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
Elad ZivDivision of General Internal Medicine, Department of Medicine, Institute of Human Genetics, University of California San Fancisco, San Francisco, California 94158, USA.
University of Tolima · COUniversity of California, San Francisco · USInstituto Nacional de Cancerología · COUniversity of Southern California · USUniversity of California, Davis · USUniversity of Nariño · COAlbert Einstein College of Medicine · USCentro Dermatológico Federico Lleras Acosta · COHarvard University · USHospital Universitario de Neiva · COPalo Alto University · USCancer Prevention Institute of California · USFoscal Hospital · COHospital Pablo Tobon Uribe · COInstitute of Human Genetics · PLInstituto Nacional de Salud Pública · MXNorthwestern University · USUniversity of Hawaiʻi at Mānoa · USUniversity of Minnesota · US
Funding
Translational Bioimaging Core Shared ResourceP30CA015704 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Thomas James Lynch · 1985 to 2026
$296.4MWORD PROCESSORP30CA013330 · NCI · YESHIVA UNIVERSITY · PI ALYSON B MOADEL · 1985 to 2026
$111.2MUnderstanding Asthma EndotypesU19AI077439 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PRESCOTT G WOODRUFF · 2008 to 2026
$41.1MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MRESOURCE CENTER FOR AGING RESEARCH IN DIVERSE POPULATIONP30AG015272 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LEAH S KARLINER · 1997 to 2026
$19.5MBreast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7MUC Davis Paul Calabresi K12 Clinical Oncology Research Career Development ProgramK12CA138464 · NCI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BIRKELAND, ANDREW CHARLES, LARA, PRIMO N. · 2011 to 2025
$11.4MUnderstanding Ethnic Differences in Cancer: The Multiethnic Cohort StudyUM1CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HENDERSON, BRIAN E, LE MARCHAND, LOIC · 2012 to 2014
$11.3MUC Davis MCB T32 Administrative Supplement to Recognize Excellence in Diversity, Equity, Inclusion, and Accessibility (DEIA) MentorshipT32GM007377 · NIGMS · UNIVERSITY OF CALIFORNIA DAVIS · PI CHEDIN, FREDERIC LOUIS · 1985 to 2023
$9.9MUC Davis Biology ProgramR25GM056765 · NIGMS · UNIVERSITY OF CALIFORNIA DAVIS · PI GOMES, ALDRIN V. · 1998 to 2019
$9.7MREDES EN ACCION--CANCER AWARENESS, TRAINING AND RESEARCHU01CA086117 · NCI · BAYLOR COLLEGE OF MEDICINE · PI RAMIREZ, AMELIE G · 2000 to 2005
$9.0MHoward Hughes Medical InstituteNCI NIH HHS 5UM1CA164973NCI NIH HHS CA77305NCI NIH HHS K01 CA160607NCI NIH HHS K12 CA138464NCI NIH HHS K24 CA169004NCI NIH HHS P30 CA013330NCI NIH HHS P30 CA015704NCI NIH HHS R01 CA063446NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA63464NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA54281NCI NIH HHS U01 CA086117NCI NIH HHS U01CA86117NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100003INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNHLBI NIH HHS HL078885NHLBI NIH HHS HL088133NHLBI NIH HHS R01 HL078885NHLBI NIH HHS R01 HL088133NIAID NIH HHS AI077439NIAID NIH HHS U19 AI077439NIA NIH HHS HHSN271201100004CNIA NIH HHS P30 AG015272NIA NIH HHS P30-AG15272NIGMS NIH HHS R25 GM056765NIGMS NIH HHS T32 GM007377WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
Abstract
The genetic contributions to breast cancer development among Latinas are not well understood. Here we carry out a genome-wide association study of breast cancer in Latinas and identify a genome-wide significant risk variant, located 5' of the Estrogen Receptor 1 gene (ESR1; 6q25 region). The minor allele for this variant is strongly protective (rs140068132: odds ratio (OR) 0.60, 95% confidence interval (CI) 0.53-0.67, P=9 × 10(-18)), originates from Indigenous Americans and is uncorrelated with previously reported risk variants at 6q25. The association is stronger for oestrogen receptor-negative disease (OR 0.34, 95% CI 0.21-0.54) than oestrogen receptor-positive disease (OR 0.63, 95% CI 0.49-0.80; P heterogeneity=0.01) and is also associated with mammographic breast density, a strong risk factor for breast cancer (P=0.001). rs140068132 is located within several transcription factor-binding sites and electrophoretic mobility shift assays with MCF-7 nuclear protein demonstrate differential binding of the G/A alleles at this locus. These results highlight the importance of conducting research in diverse populations.
Indexed as
Gene Expression Regulation, NeoplasticAdolescentAdultAgedAllelesBiomarkers, TumorBreast NeoplasmsCase-Control StudiesCell Line, TumorChromosome MappingFemaleGenetic VariationGenome, HumanGenome-Wide Association StudyGenotypeHumansBiomarkers, TumorReceptors, Estrogen
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