Evidence map›Paper›PMID 36766832›Full record

ArticleCells2023

Immunogenomic Biomarkers and Validation in Lynch Syndrome.

Ramadhani Chambuso, Mbali Mthembu, Eveline Kaambo, Barbara Robertson, Raj Ramesar

Open access · goldAbstract read
In one paragraph

Article in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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 1 institution in 2 countries.

Ramadhani ChambusoMRC Unit for Genomic and Precision Medicine, Division of Human Genetics, Department of Pathology, Institute for Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7704, South Africa.ORCID 0000-0001-8794-604X
Mbali MthembuMRC Unit for Genomic and Precision Medicine, Division of Human Genetics, Department of Pathology, Institute for Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7704, South Africa.
Eveline KaamboDepartment of Biochemistry and Medical Microbiology, School of Medicine, University of Namibia, 340, Windhoek 9000, Namibia.
Barbara RobertsonDepartment of Radiation Oncology, Groote Schuur Hospital, University of Cape Town, Observatory, Cape Town 7704, South Africa.
Raj RamesarMRC Unit for Genomic and Precision Medicine, Division of Human Genetics, Department of Pathology, Institute for Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7704, South Africa.
University of Cape Town · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lynch syndrome (LS) is an inherited disorder in which affected individuals have a significantly higher-than-average risk of developing colorectal and non-colorectal cancers, often before the age of 50 years. In LS, mutations in DNA repair genes lead to a dysfunctional post-replication repair system. As a result, the unrepaired errors in coding regions of the genome produce novel proteins, called neoantigens. Neoantigens are recognised by the immune system as foreign and trigger an immune response. Due to the invasive nature of cancer screening tests, universal cancer screening guidelines unique for LS (primarily colonoscopy) are poorly adhered to by LS variant heterozygotes (LSVH). Currently, it is unclear whether immunogenomic components produced as a result of neoantigen formation can be used as novel biomarkers in LS. We hypothesise that: (i) LSVH produce measurable and dynamic immunogenomic components in blood, and (ii) these quantifiable immunogenomic components correlate with cancer onset and stage. Here, we discuss the feasibility to: (a) identify personalised novel immunogenomic biomarkers and (b) validate these biomarkers in various clinical scenarios in LSVH.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisEndometrial NeoplasmsBiomarkersFemaleGerm-Line MutationHumansMiddle AgedBiomarkerscolorectal and non-colorectal cancersframeshift mutationsimmune responsesimmunogenomic biomarkersLynch syndrome variant heterozygotesneoantigens

Identifiers

PMID36766832
PMCPMC9914748
OpenAlexW4319084023

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.