Evidence map›Paper›PMID 37642678›Full record

ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2023

Gene-Environment Analyses in a UK Biobank Skin Cancer Cohort Identifies Important SNPs in DNA Repair Genes That May Help Prognosticate Disease Risk.

Richie Jeremian, Pingxing Xie, Misha Fotovati, Philippe Lefrançois, Ivan V Litvinov

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
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  3. Article
  4. Review
  5. Article
  6. Article
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

5 authors at 2 institutions in 1 country.

Richie JeremianFaculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.ORCID 0000-0001-9258-6296
Pingxing XieFaculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-4674-5695
Misha FotovatiFaculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.ORCID 0009-0000-8203-4420
Philippe LefrançoisFaculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-2939-7956
Ivan V LitvinovFaculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-0562-4675
McGill University Health Centre · CAJewish General Hospital · CA

Funding

Single-molecule nanomagnetic assays for ultrasmall sample clinical diagnosticsRC1RR028465 · NCRR · UNIVERSITY OF HOUSTON · PI LITVINOV, DMITRI · 2009 to 2010
$962k
NCRR NIH HHS RC1 RR028465
6 · The paper itself

Abstract

backgroundDespite well-established relationships between sun exposure and skin cancer pathogenesis/progression, specific gene-environment interactions in at-risk individuals remain poorly-understood.

methodsWe leveraged a UK Biobank cohort of basal cell carcinoma (BCC, n = 17,221), cutaneous squamous cell carcinoma (cSCC, n = 2,331), melanoma in situ (M-is, n = 1,158), invasive melanoma (M-inv, n = 3,798), and healthy controls (n = 448,164) to quantify the synergistic involvement of genetic and environmental factors influencing disease risk. We surveyed 8,798 SNPs from 190 DNA repair genes, and 11 demographic/behavioral risk factors.

resultsClinical analysis identified darker skin (RR = 0.01-0.65) and hair (RR = 0.27-0.63) colors as protective factors. Eleven SNPs were significantly associated with BCC, three of which were also associated with M-inv. Gene-environment analysis yielded 201 SNP-environment interactions across 90 genes (FDR-adjusted q < 0.05). SNPs from the FANCA gene showed interactions with at least one clinical factor in all cancer groups, of which three (rs9926296, rs3743860, rs2376883) showed interaction with nearly every factor in BCC and M-inv.

conclusionsWe identified novel risk factors for keratinocyte carcinomas and melanoma, highlighted the prognostic value of several FANCA alleles among individuals with a history of sunlamp use and childhood sunburns, and demonstrated the importance of combining genetic and clinical data in disease risk stratification. IMPACT: This study revealed genome-wide associations with important implications for understanding skin cancer risk in the context of the rapidly-evolving field of precision medicine. Major individual factors (including sex, hair and skin color, and sun protection use) were significant mediators for all skin cancers, interacting with >200 SNPs across four skin cancer types.

Indexed as

Basal Cell CarcinomaCarcinoma, Squamous CellMelanomaSkin NeoplasmsBiological Specimen BanksChildCutaneous Malignant MelanomaDNA RepairHumansPolymorphism, Single NucleotideRisk FactorsUnited Kingdom

Identifiers

PMID37642678
PMCPMC10840669
OpenAlexW4386256113

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.