Evidence map›Paper›PMID 41338217›Full record

ArticleAmerican journal of human genetics2026

Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.

Qing Li, Qingyuan Song, Zhishan Chen, Jungyoon Choi, Victor Moreno, Jie Ping, Wanqing Wen, Chao Li, Xiang Shu, Jun Yan and 21 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors.

Qing LiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada.
Qingyuan SongDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Computer Science, Vanderbilt University, Nashville, TN, USA.
Zhishan ChenDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Jungyoon ChoiDivision of Oncology and Hematology, Department of Internal Medicine, Korea University Ansan Hospital, Korea University College of Medicine, Ansan 15355, Korea.
Victor MorenoOncology Data Analytics Program, Catalan Institute of Oncology (ICO), L'Hospitalet de Llobregat, Barcelona, Spain; Colorectal Cancer Group, ONCOBELL Program, Institut de Recerca Biomedica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain; Department of Clinical Sciences, Faculty of Medicine and Health Sciences and Universitat de Barcelona Institute of Complex Systems (UBICS), University of Barcelona (UB), L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Wanqing WenDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Chao LiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Xiang ShuDepartment of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Jun YanPhysiology and Pharmacology, University of Calgary, Calgary, AB, Canada.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Jeroen R HuyghePublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Rish PaiMayo Clinic Arizona, Scottsdale, AZ, USA.
Stephen B GruberDepartment of Preventive Medicine & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Yaohua YangCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Graham CaseyCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Xusheng WangDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Adetunji T ToriolaDivision of Public Health Sciences, Department of Surgery, Washington University School of Medicine and Siteman Cancer Center, St. Louis, MO, USA.
Li LiDepartment of Family Medicine, School of Medicine, University of Virginia, Charlottesville, VA, USA.
Bhuminder SinghEpithelial Biology Center and Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA.
Ken S LauEpithelial Biology Center and Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA.
Li ZhouHarvard Medical School, Boston, MA, USA; Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Zichen ZhangDepartment of Biostatistics, the University of Texas MD Anderson, Houston, TX, USA.
Chong WuDepartment of Biostatistics, the University of Texas MD Anderson, Houston, TX, USA.
Ulrike PetersPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA; Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Quan LongDepartment of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; The Mathison Centre for Mental Health Research & Education, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Mathematics and Statistics, Faculty of Science, University of Calgary, Calgary, AB, Canada.
Zhijun YinDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Computer Science, Vanderbilt University, Nashville, TN, USA. Electronic address: zhijun.yin.1@vumc.org.
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: xingyi.guo@vumc.org.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Leveraging Omics and Electronic Health Records Data to study Colorectal Adenoma genetics and Drug RepurposingR01CA297582 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GUO, XINGYI, YIN, ZHIJUN · 2025 to 2025
$4.2M
NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA297582
6 · The paper itself

Abstract

Identifying risk protein targets and their therapeutic drugs is crucial for effective cancer prevention. Here, we conduct integrative and fine-mapping analyses of large genome-wide association studies data for breast, colorectal, lung, ovarian, pancreatic, and prostate cancers and characterize 710 lead variants independently associated with cancer risk. Through mapping protein quantitative trait loci (pQTLs) for these variants using plasma proteomics data from over 75,000 participants, we identify 365 proteins associated with cancer risk. Subsequent colocalization analysis identifies 101 proteins, including 74 not reported in previous studies. We further characterize 36 potential druggable proteins for cancers or other disease indications. Analyzing >3.5 million electronic health records, we conducted analyses of emulated trials for 11 drugs across 290 comparisons and identified three drugs significantly associated with reduced colorectal cancer risk: caffeine vs. paroxetine (hazard ratio [HR], 0.51; 95% confidence interval [CI], 0.41-0.64), haloperidol vs. prochlorperazine (HR, 0.47; 95% CI, 0.33-0.68), and trazodone hydrochloride vs. paroxetine (HR, 0.49; 95% CI, 0.38-0.63). Conversely, caffeine was associated with increased cancer risk in comparison with finasteride (colorectal cancer) and fluoxetine (breast cancer). Meta-analysis identified six drugs significantly associated with cancer risk, including acetazolamide, which was associated with reduced colorectal cancer risk (HR, 0.79; 95% CI, 0.72-0.87). This study identifies previously unreported protein biomarkers and candidate drug targets across six major cancer types and highlights several approved drugs with potential chemopreventive effects.

Indexed as

Biomarkers, TumorElectronic Health RecordsNeoplasmsCaffeineFemaleGenome-Wide Association StudyHumansMaleProteomicsQuantitative Trait LociBiomarkers, TumorCaffeineacetazolamidecaffeinedrug trial emulationEHRGWAShuman cancerspQTLproteomicsrisk variantstherapeutic drug

Identifiers

PMID41338217
PMCPMC12824608

What OpenQuestion holds

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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.