ArticleCancers2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Open access · goldAbstract read
In one paragraph
Article in Cancers, 2023. 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
0.3field-weighted citation impact, top 38% of its field
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.
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.
Who cites it
3 citing papers in PubMed, 1 citations in OpenAlex.
- Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.Human mutation · 2026Article
- Durable response to dual immune checkpoint blockade in Lynch syndrome-associated serous ovarian carcinoma: a case report.Frontiers in medicine · 2026Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 15 institutions in 2 countries.
Romy WalkerColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.ORCID 0000-0001-8948-8417
Khalid MahmoodColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.ORCID 0000-0003-0980-3646
Julia ComoColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Mark ClendenningColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Jihoon E JooColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Peter GeorgesonColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Sharelle JoselandColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Susan G PrestonColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Bernard J PopeColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.ORCID 0000-0002-4840-1095
James M ChanColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.ORCID 0000-0002-1971-8800
Rachel AustinGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Jasmina BojadzievaClinical Genetics Unit, Austin Health, Melbourne, VIC 3084, Australia.
Ainsley CampbellClinical Genetics Unit, Austin Health, Melbourne, VIC 3084, Australia.
Emma EdwardsFamilial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.
Margaret GleesonHunter Family Cancer Service, Newcastle, NSW 2298, Australia.
Annabel GoodwinCancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Marion T HarrisMonash Health Familial Cancer Centre, Clayton, VIC 3168, Australia.
Emilia IpCancer Genetics Service, Liverpool Hospital, Liverpool, NSW 2170, Australia.
Judy KirkHunter Family Cancer Service, Newcastle, NSW 2298, Australia.
Julia MansourTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
Helen Mar FanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Cassandra NicholsGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Nicholas PachterGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Abiramy RagunathanHunter Family Cancer Service, Newcastle, NSW 2298, Australia.
Allan SpigelmanCancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Rachel SusmanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Michael ChristieDepartment of Medicine, Royal Melbourne Hospital, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3052, Australia.
Mark A JenkinsUniversity of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Rish K PaiDepartment of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ 85259, USA.
Christophe RostyColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.
Finlay A MacraeGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, VIC 3052, Australia.
Ingrid M WinshipGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, VIC 3052, Australia.ORCID 0000-0001-8535-6003
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3000, Australia.ORCID 0000-0003-2225-6675
ANGELS Study
The University of Melbourne · AUThe Royal Melbourne Hospital · AUHunter Genetics · AURoyal Brisbane and Women's Hospital · AUAustin Health · AUKing Edward Memorial Hospital · AULiverpool Hospital · AUMayo Clinic in Arizona · USMonash Health · AURoyal Hobart Hospital · AURoyal Prince Alfred Hospital · AUThe University of Queensland · AUThe University of Sydney · AUThe University of Western Australia · AUWestmead Hospital · AU
Funding
Data sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8MNCI NIH HHS U01 CA167551NIH HHS U01 CA167551
Abstract
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability to support the ACMG/InSiGHT framework in classifying variants of uncertain clinical significance (VUS) in the MMR genes. Twenty-eight CRC or EC tumors from 25 VUS carriers (6x
Indexed as
colorectal cancerDNA mismatch repair deficient crypts/glandsDNA mismatch repair gene somatic mutationsDNA mismatch repair gene variant classificationendometrial cancerLynch syndromevariant of uncertain significance
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
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.