Evidence map›Paper›PMID 28742792›Full record

ArticleBritish journal of cancer2017

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops and 15 more

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

Article in British journal of cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

9 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 8 institutions in 4 countries.

Stephanie A SchubertDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Dina RuanoDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Fadwa A ElsayedDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Arnoud BootDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Stijn CrobachDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Arantza Farina SarasquetaDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Bruce WolffenbuttelDepartment of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Melanie M van der KlauwDepartment of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Jan OostingDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Carli M TopsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Ronald van EijkDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Hans Fa VasenDepartment of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Rolf Ham VossenDepartment of Human Genetics, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Maartje NielsenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Sergi Castellví-BelDepartment of Gastroenterology, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Catalonia 08036, Spain.
Clara Ruiz-PonteFundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación en Red de Enfermedades Raras (CIBERER), Santiago de Compostela 15706, Spain.
Ian TomlinsonOxford Centre for Cancer Gene Research, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Malcolm G DunlopColon Cancer Genetics Group, MRC Human Genetics Unit, The University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Pavel VodickaInstitute of Experimental Medicine, Institute of Biology and Medical Genetics, Prague 142 00, Czech Republic.
Juul T WijnenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Frederik J HesDepartment of Clinical Genetics, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Hans MorreauDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Noel Fcc de MirandaDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Rolf H SijmonsDepartment of Genetics, University of Groningen, University Medical Centre Groningen, Groningen 9700 RB, The Netherlands.
Tom van WezelDepartment of Pathology, Leiden University Medical Center, Leiden University, Leiden 2300 RC, The Netherlands.
Leiden University Medical Center · NLUniversity Medical Center Groningen · NLCentre for Human Genetics · GBConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESCzech Academy of Sciences, Institute of Experimental Medicine · CZInstituto de Investigación Sanitaria de Santiago · ESUniversity of Edinburgh · GBUniversity of Groningen · NL

Funding

Cancer Research UK 12076Cancer Research UK 18927Medical Research Council MC_PC_U127527198Medical Research Council MC_U127527198Wellcome Trust
6 · The paper itself

Abstract

backgroundA substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders.

methodsHomozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls. Gene expression was assessed at the mRNA and protein level.

resultsHomozygosity mapping revealed a disease-associated region at 1q32.3 which was part of the linkage region 1q32.2-42.2 identified in the CRC family. This includes a region previously associated with risk of CRC. Sequencing identified the p.Asp1432Glu variant in the MIA3 gene (known as TANGO1 or TANGO) and 472 additional rare, shared variants within the linkage region. In both cases and controls the population frequency was 0.02% for this MIA3 variant. The MIA3 mutant allele showed predominant mRNA expression in normal, cancer and precancerous tissues. Furthermore, immunohistochemistry revealed increased expression of MIA3 in adenomatous tissues.

conclusionsTaken together, our two independent strategies associate genetic variations in chromosome 1q loci and predisposition to familial CRC and polyps, which warrants further investigation.

Indexed as

Genetic Predisposition to DiseaseAdenomatous Polyposis ColiAryl Hydrocarbon Receptor Nuclear TranslocatorChromosome MappingChromosomes, Human, Pair 1Colorectal NeoplasmsGenetic LinkageGenotypeGTPase-Activating ProteinsHomozygoteHumansMicrosatellite RepeatsNeoplasm ProteinsPolymorphism, Single NucleotidePrecancerous ConditionsRNA, MessengerARNT protein, humanAryl Hydrocarbon Receptor Nuclear TranslocatorGTPase-Activating ProteinsNeoplasm ProteinsRNA, Messenger

Identifiers

PMID28742792
PMCPMC5589990
OpenAlexW2736445973

What OpenQuestion holds

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LicenceCC BY-NC-SA
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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.