Evidence map›Paper›PMID 38546397›Full record

ArticleMolecular cancer research : MCR2024

PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.

Elena Meuser, Kyle Chang, Angharad Walters, Joanna J Hurley, Hannah D West, Iain Perry, Matthew Mort, Laura Reyes-Uribe, Rebekah Truscott, Nicholas Jones and 19 more

Open access · hybridAbstract read
In one paragraph

Article in Molecular cancer research : MCR, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

29 authors at 8 institutions in 3 countries.

Elena MeuserDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-3308-8577
Kyle ChangDepartment of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0001-5295-9676
Angharad WaltersDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0009-0007-6056-1482
Joanna J HurleyDepartment of Gastroenterology, Cwm Taf Morgannwg University Health Board, Llantrisant, United Kingdom.ORCID 0009-0005-1422-0463
Hannah D WestDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-6104-6534
Iain PerryInstitute of Life Science 1, Swansea University, Swansea, United Kingdom.ORCID 0000-0001-8530-4086
Matthew MortDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-3986-0935
Laura Reyes-UribeDepartment of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0001-6091-6705
Rebekah TruscottDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-2187-8571
Nicholas JonesInstitute of Life Science 1, Swansea University, Swansea, United Kingdom.ORCID 0000-0003-4846-5117
Rachel LawrenceInstitute of Life Science 1, Swansea University, Swansea, United Kingdom.ORCID 0000-0002-1023-5220
Gareth JenkinsInstitute of Life Science 1, Swansea University, Swansea, United Kingdom.ORCID 0000-0002-5437-8389
Peter GilesDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0003-3143-6854
Sunil DolwaniDivision of Population Medicine, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-3113-5472
Bilal Al-SarirehDepartment of Gastroenterology, Swansea Bay University Health Board, Swansea, United Kingdom.ORCID 0000-0002-5974-187X
Neil HawkesDepartment of Gastroenterology, Cwm Taf Morgannwg University Health Board, Llantrisant, United Kingdom.ORCID 0009-0009-4573-3092
Emma ShortDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0001-5050-589X
Geraint T WilliamsDivision of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0003-3768-9940
Melissa W TaggartDepartment of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0002-7803-9904
Kim LuetchfordCellesce Limited, Cardiff Medicentre, Cardiff, United Kingdom.ORCID 0000-0003-3601-508X
Patrick M LynchDepartment of Gastroenterology, Hepatology and Nutrition, UT MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0003-0125-3109
Diantha TerlouwLeiden University Medical Center (LUMC), Department of Clinical Genetics, Leiden, The Netherlands.ORCID 0000-0002-8090-8806
Maartje NielsenLeiden University Medical Center (LUMC), Department of Clinical Genetics, Leiden, The Netherlands.ORCID 0000-0002-5351-1870
Sarah-Jane WaltonSt Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.ORCID 0000-0002-3438-2268
Andrew LatchfordSt Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.ORCID 0000-0002-8626-188X
Susan K ClarkSt Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.ORCID 0000-0002-6929-8082
Julian R Sampson *Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.ORCID 0000-0002-2902-2348
Eduardo Vilar *Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0001-6404-3761
Laura E Thomas *Institute of Life Science 1, Swansea University, Swansea, United Kingdom.ORCID 0000-0002-8621-5285
Cardiff University · GBSwansea University · GBThe University of Texas MD Anderson Cancer Center · USSt. Mark's Hospital · USCwm Taf University Health Board · GBLeiden University Medical Center · NLSwansea Bay University Health Board · GBBritish Biocell International (United Kingdom) · GB

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
R25 SUPPLEMENT IN GENETIC EPIDEMIOLOGY EDUCATIONR25CA057730 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI CHANG, SHINE · 1992 to 2016
$18.6M
Dietary HDAC Inhibitors in Colon Cancer PreventionR01CA122959 · NCI · TEXAS A&M UNIVERSITY HEALTH SCIENCE CTR · PI DASHWOOD, RODERICK H · 2008 to 2023
$4.3M
Immunoepigenetic targeting of MHC regulators in FAPR01CA257559 · NCI · TEXAS A&M UNIVERSITY HEALTH SCIENCE CTR · PI Roderick H Dashwood, Eduardo Vilar Sanchez · 2023 to 2026
$2.3M
Discovering New Targets for Chemoprevention in Familial Adenomatous PolyposisR03CA176788 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI VILAR SANCHEZ, EDUARDO · 2014 to 2015
$160k
Health and Care Research Wales (HCRW) HF-14-10National Institutes of Health (NIH) CA016672National Institutes of Health (NIH) R03CA176788National Institutes of Health (NIH) R25T CA057730NCI NIH HHS P30 CA016672NCI NIH HHS R01 CA122959NCI NIH HHS R01 CA257559NCI NIH HHS R03 CA176788NCI NIH HHS R25 CA057730
6 · The paper itself

Abstract

The pathogenesis of duodenal tumors in the inherited tumor syndromes familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) is poorly understood. This study aimed to identify genes that are significantly mutated in these tumors and to explore the effects of these mutations. Whole exome and whole transcriptome sequencing identified recurrent somatic coding variants of phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA) in 19/70 (27%) FAP and MAP duodenal adenomas, and further confirmed the established driver roles for APC and KRAS. PIGA catalyzes the first step in glycosylphosphatidylinositol (GPI) anchor biosynthesis. Flow cytometry of PIGA-mutant adenoma-derived and CRISPR-edited duodenal organoids confirmed loss of GPI anchors in duodenal epithelial cells and transcriptional profiling of duodenal adenomas revealed transcriptional signatures associated with loss of PIGA. IMPLICATIONS: PIGA somatic mutation in duodenal tumors from patients with FAP and MAP and loss of membrane GPI-anchors may present new opportunities for understanding and intervention in duodenal tumorigenesis.

Indexed as

Adenomatous Polyposis ColiDuodenal NeoplasmsGlycosylphosphatidylinositolsMembrane ProteinsMutationCarcinogenesisFemaleHumansMaleGlycosylphosphatidylinositolsMembrane Proteinsphosphatidylinositol glycan-class A protein

Identifiers

PMID38546397
PMCPMC11148540
OpenAlexW4393257698

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.