Evidence map›Paper›PMID 29147930›Full record

ArticleFamilial cancer2018

SNP association study in PMS2-associated Lynch syndrome.

Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp and 11 more

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

Article in Familial cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. A common genetic variation inFrontiers in oncology · 2023
    Article
  3. 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

21 authors at 11 institutions in 1 country.

Sanne W Ten BroekeDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. tenbroeke@lumc.nl.
Fadwa A ElsayedDepartment of Pathology, Leiden University Medical Centre, Leiden, The Netherlands.
Lisa PaganDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Maran J W Olderode-BerendsDepartment of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Encarna Gomez GarciaDepartment of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hans J P GilleDepartment of Clinical Genetics, VU Amsterdam, Amsterdam, The Netherlands.
Liselot P van HestDepartment of Clinical Genetics, VU Amsterdam, Amsterdam, The Netherlands.
Tom G W LetteboerDepartment of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Lizet E van der KolkDepartment of Clinical Genetics, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Arjen R MensenkampDepartment of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Theo A van OsDepartment of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Liesbeth SpruijtDepartment of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Bert J W RedekerDepartment of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Manon SuerinkDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Yvonne J VosDepartment of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Anja WagnerDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Juul T WijnenDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
E W SteyerbergDepartment of Medical Statistics, Leiden University Medical Centre, Leiden, The Netherlands.
Carli M J TopsDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Tom van WezelDepartment of Pathology, Leiden University Medical Centre, Leiden, The Netherlands.
Maartje NielsenDepartment of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Leiden University · NLAcademic Medical Center · NLUniversity Medical Center Groningen · NLVrije Universiteit Amsterdam · NLErasmus University Rotterdam · NLLeiden University Medical Center · NLMaastricht University Medical Centre · NLRadboud University Medical Center · NLRadboud University Nijmegen · NLThe Netherlands Cancer Institute · NLUniversity Medical Center Utrecht · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3. Hazard ratios (HRs) were calculated using a weighted Cox regression analysis to correct for ascertainment bias. Discrimination was assessed with a concordance statistic in a bootstrap cross-validation procedure. Individual SNPs only had non-significant associations with CRC occurrence with HRs lower than 2, although male carriers of allele A at rs1321311 (6p21.31) may have increased risk of CRC (HR = 2.1, 95% CI 1.2-3.0). A polygenic risk score (PRS) based on 24 HRs had an HR of 2.6 (95% CI 1.5-4.6) for the highest compared to the lowest quartile, but had no discriminative ability (c statistic 0.52). Previously suggested SNPs do not modify CRC risk in PMS2 carriers. Future large studies are needed for improved risk stratification among Lynch syndrome patients.

Indexed as

Polymorphism, Single NucleotideAdultAgedAged, 80 and overCase-Control StudiesChromosomes, Human, Pair 11Chromosomes, Human, Pair 8Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHeterozygoteHumansKaplan-Meier EstimateMaleMismatch Repair Endonuclease PMS2PMS2 protein, humanCancer riskColorectal cancerLynch syndromeModifiersPMS2SNP

Identifiers

PMID29147930
PMCPMC6182583
OpenAlexW2769733750

What OpenQuestion holds

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LicenceCC BY
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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.