Evidence map›Paper›PMID 39561785›Full record

ReviewCancer science2025

Leveraging genome-wide association studies to better understand the etiology of cancers.

Kyuto Sonehara, Yukinori Okada

Abstract readReview
In one paragraph

Review in Cancer science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Associations of combined lifestyle and genetic risk with incident head and neck cancer: a prospective study in the UK Biobank.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Article
  2. Article
  3. Review
  4. Review
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

2 authors.

Kyuto SoneharaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-4536-1761
Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Funding

Bioinformatics Initiative of Osaka University Graduate School of MedicineCenter for Advanced Modality and DDS (CAMaD), Osaka UniversityCenter for Infectious Disease Education and Research (CiDER), Osaka UniversityInstitute for Open and Transdisciplinary Research Initiatives, Osaka UniversityJapan Agency for Medical Research and Development JP223fa627002Japan Agency for Medical Research and Development JP223fa627010Japan Agency for Medical Research and Development JP22ek0109594Japan Agency for Medical Research and Development JP22ek0410075Japan Agency for Medical Research and Development JP22km0405211Japan Agency for Medical Research and Development JP22km0405217Japan Agency for Medical Research and Development JP233fa627011Japan Agency for Medical Research and Development JP23zf0127008Japan Society for the Promotion of Science 22H00476Japan Society for the Promotion of Science 23K14451Moonshot Research and Development Program JPMJMS2021Moonshot Research and Development Program JPMJMS2024Takeda Science Foundation
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) statistically assess the association between tens of millions of genetic variants in the whole genome and a phenotype of interest. Genome-wide association studies enable the elucidation of polygenic inheritance of cancer, in which myriad low-penetrance genetic variants collectively contribute to a substantial proportion of the heritable susceptibility. In addition to the robust genotype-phenotype associations provided by GWAS, combining GWAS data with functional genomic datasets or sophisticated statistical genetic methods unlocks deeper insights. Integrating genotype and molecular phenotyping data facilitates functional characterization of GWAS association signals through molecular quantitative trait loci mapping and transcriptome-wide association studies. Furthermore, aggregating genome-wide polygenic signals, including subthreshold associations, enables one to estimate genetic correlations across diverse phenotypes and helps in clinical risk predictions by evaluating polygenic risk scores. In this review, we begin by summarizing the rationale for GWAS of cancer, introduce recent methodological updates in the GWAS-derived downstream analyses, and demonstrate their applications to GWAS of cancers.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyNeoplasmsGenotypeHumansMultifactorial InheritancePhenotypePolymorphism, Single NucleotideQuantitative Trait LocieQTLgenetic correlationgenome‐wide association studypolygenic risk scoretranscriptome‐wide association study

Identifiers

PMID39561785
PMCPMC11786324

What OpenQuestion holds

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LicenceCC BY-NC
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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.