Evidence map›Paper›PMID 31553449›Full record

ArticleJournal of the National Cancer Institute2020

A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.

Yiwey Shieh, Laura Fejerman, Paul C Lott, Katie Marker, Sarah D Sawyer, Donglei Hu, Scott Huntsman, Javier Torres, Magdalena Echeverry, Mabel E Bohórquez and 14 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the National Cancer Institute, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 2 pooled it
7.7field-weighted citation impact, top 2% 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

55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.

  1. Pooled it
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  8. Breast cancer polygenic risk score performance varies by socioeconomic status.medRxiv : the preprint server for health sciences · 2026
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  15. 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 · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 14 institutions in 4 countries.

Yiwey ShiehDivision of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA.
Laura FejermanDivision of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA.
Paul C LottUC Davis Genome Center, University of California, Davis, Davis, CA.
Katie MarkerSchool of Public Health, University of California, Berkeley; Berkeley, CA.
Sarah D SawyerNatera, San Carlos, CA.
Donglei HuDivision of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA.
Scott HuntsmanDivision of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA.
Javier TorresUnidad de Investigación en Enfermedades Infecciosas, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Magdalena EcheverryGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Mabel E BohórquezGrupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.
Juan Carlos Martínez-ChéquerHospital de Gineco-Obstetrícia No.4 "LCA", Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Guadalupe Polanco-EcheverryUC Davis Genome Center, University of California, Davis, Davis, CA.
Ana P Estrada-FlórezUC Davis Genome Center, University of California, Davis, Davis, CA.
COLUMBUS Consortium
Christopher A HaimanDepartment of Preventive Medicine, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Esther M JohnDepartment of Medicine, Stanford University School of Medicine, Stanford, CA.
Lawrence H KushiUC Davis Genome Center, University of California, Davis, Davis, CA.
Gabriela Torres-MejíaInstituto Nacional de Salud Pública, Cuernavaca, MX.
Tatianna VidaurreInstituto Nacional de Enfermedades Neoplásicas, Surquillo, Peru.
Jeffrey N WeitzelDivision of Clinical Genetics, City of Hope National Medical Center, Duarte, CA.
Sandro Casavilca ZambranoInstituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
Luis G Carvajal-CarmonaDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Sacramento, CA.
Elad ZivDivision of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, CA.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA.
University of California, San Francisco · USUniversity of Tolima · COInstituto Nacional de Enfermedades Neoplásicas · PEMexican Social Security Institute · MXUniversity of California, Davis · USBerkeley College · USCity of Hope · USCity Of Hope National Medical Center · USInstituto Nacional de Salud Pública · MXKaiser Permanente · USNatera (United States) · USStanford University · USUC Davis Comprehensive Cancer CenterUniversity of Southern California · US

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2M
Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
Institutional Career Development Core SupplementKL2TR001870 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KANAYA, ALKA M., SARKAR, URMIMALA · 2016 to 2025
$19.7M
Tissue &PathologyP50CA093372 · NCI · WISTAR INSTITUTE · PI HERLYN, MEENHARD F · 2001 to 2009
$15.4M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Understanding Ethnic Differences in Cancer: The Multiethnic Cohort StudyUM1CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HENDERSON, BRIAN E, LE MARCHAND, LOIC · 2012 to 2014
$11.3M
Germline and Tumor Genomic Analyses of Breast Cancer in LatinasR01CA184585 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI NEUHAUSEN, SUSAN L., ZIV, ELAD · 2014 to 2018
$4.2M
Admixture Mapping for Breast Cancer in LatinasR01CA120120 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZIV, ELAD · 2007 to 2011
$2.8M
Fine-mapping of 8q24 and Loci Identified in Genome-Wide Studies for Breast & ColoR01CA132839 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAIMAN, CHRISTOPHER ALAN · 2008 to 2010
$2.0M
Biological implications of breast cancer protective variants in Latin Americanwomen with high Indigenous American ancestryR01CA204797 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FEJERMAN, LAURA · 2016 to 2020
$1.9M
Genetics of mammographic density and breast cancer risk in LatinasK24CA169004 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZIV, ELAD · 2012 to 2021
$1.8M
NCATS NIH HHS KL2 TR001870NCI NIH HHS K08 CA237829NCI NIH HHS K24 CA169004NCI NIH HHS P50 CA093372NCI NIH HHS R01 CA063446NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA204797NCI NIH HHS R37 CA054281NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NIA NIH HHS RC2 AG036607
6 · The paper itself

Abstract

backgroundMore than 180 single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified; these SNPs can be combined into polygenic risk scores (PRS) to predict breast cancer risk. Because most SNPs were identified in predominantly European populations, little is known about the performance of PRS in non-Europeans. We tested the performance of a 180-SNP PRS in Latinas, a large ethnic group with variable levels of Indigenous American, European, and African ancestry.

methodsWe conducted a pooled case-control analysis of US Latinas and Latin American women (4658 cases and 7622 controls). We constructed a 180-SNP PRS consisting of SNPs associated with breast cancer risk (P < 5 × 10-8). We evaluated the association between the PRS and breast cancer risk using multivariable logistic regression, and assessed discrimination using an area under the receiver operating characteristic curve. We also assessed PRS performance across quartiles of Indigenous American genetic ancestry. All statistical tests were two-sided.

resultsOf 180 SNPs tested, 142 showed directionally consistent associations compared with European populations, and 39 were nominally statistically significant (P < .05). The PRS was associated with breast cancer risk, with an odds ratio per SD increment of 1.58 (95% confidence interval [CI = 1.52 to 1.64) and an area under the receiver operating characteristic curve of 0.63 (95% CI = 0.62 to 0.64). The discrimination of the PRS was similar between the top and bottom quartiles of Indigenous American ancestry.

conclusionsThe 180-SNP PRS predicts breast cancer risk in Latinas, with similar performance as reported for Europeans. The performance of the PRS did not vary substantially according to Indigenous American ancestry.

Indexed as

AgedBreast NeoplasmsCase-Control StudiesFemaleGenetic Predisposition to DiseaseHispanic or LatinoHumansLogistic ModelsMiddle AgedPolymorphism, Single Nucleotide

Identifiers

PMID31553449
PMCPMC7301155
OpenAlexW2977191607

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

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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.