Evidence map›Paper›PMID 32591342›Full record

ArticleJournal of medical genetics2021

Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.

Matteo Di Giovannantonio, Benjamin Hl Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.4field-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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
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  10. Obesity: a perfect storm for carcinogenesis.Cancer metastasis reviews · 2022
    Review
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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

14 authors at 1 institution in 1 country.

Matteo Di GiovannantonioComputational Biology & Integrative Genomics Lab, Department of Oncology, Medical Science Division, University of Oxford, Oxford, UK.
Benjamin Hl HarrisComputational Biology & Integrative Genomics Lab, Department of Oncology, Medical Science Division, University of Oxford, Oxford, UK.ORCID 0000-0002-8154-8953
Ping ZhangLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Isaac Kitchen-SmithLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Lingyun XiongLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Natasha SahgalLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Giovanni StracquadanioLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Marsha WallaceLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK.
Sarah BlagdenCancer Therapeutics and mRNA Dysregulation, Department of Oncology, Medical Sciences Division, University of Oxford, Oxford, UK.
Simon LordEarly Phase Clinical Trials Unit, Department of Oncology, Medical Siences Division, University of Oxford, Oxford, UK.
David HarrisSt Anne's College, University of Oxford, Oxford, UK.
Adrian H L HarrisMolecular Oncology Laboratories, Department of Oncology, Medical Sciences Division, University of Oxford, Oxford, UK.
Francesca M BuffaComputational Biology & Integrative Genomics Lab, Department of Oncology, Medical Science Division, University of Oxford, Oxford, UK francesca.buffa@oncology.ox.ac.uk G.Bond.1@bham.ac.uk.ORCID 0000-0003-0409-406X
Gareth L BondLudwig Cancer Institute, Medical Sciences Division, University of Oxford, Oxford, UK francesca.buffa@oncology.ox.ac.uk G.Bond.1@bham.ac.uk.
University of Oxford · GB

Funding

Cancer Research UK 11359Cancer Research UK 23969
6 · The paper itself

Abstract

backgroundHeight and other anthropometric measures are consistently found to associate with differential cancer risk. However, both genetic and mechanistic insights into these epidemiological associations are notably lacking. Conversely, inherited genetic variants in tumour suppressors and oncogenes increase cancer risk, but little is known about their influence on anthropometric traits.

methodsBy integrating inherited and somatic cancer genetic data from the Genome-Wide Association Study Catalog, expression Quantitative Trait Loci databases and the Cancer Gene Census, we identify SNPs that associate with different cancer types and differential gene expression in at least one tissue type, and explore the potential pleiotropic associations of these SNPs with anthropometric traits through SNP-wise association in a cohort of 500,000 individuals.

resultsWe identify three regulatory SNPs for three important cancer genes, FANCA, MAP3K1 and TP53 that associate with both anthropometric traits and cancer risk. Of particular interest, we identify a previously unrecognised strong association between the rs78378222[C] SNP in the 3' untranslated region (3'-UTR) of TP53 and both increased risk for developing non-melanomatous skin cancer (OR=1.36 (95% 1.31 to 1.41), adjusted p=7.62E

conclusionOur results clearly demonstrate that heritable variants in key cancer genes can associate with both differential cancer risk and anthropometric traits in the general population, thereby lending support for a genetic basis for linking these human phenotypes.

Indexed as

Body Weights and MeasuresOncogenesPolymorphism, Single NucleotideAdultAgedAnthropometryCohort StudiesFemaleGenetic LinkageGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedNeoplasmscancer: CNScancer: dermatologicalclinical geneticscomplex traitsdevelopmental

Identifiers

PMID32591342
PMCPMC8142426
OpenAlexW3037809655

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.