Evidence map›Paper›PMID 37509324›Full record

ReviewCancers2023

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Laura Roht, Piret Laidre, Mikk Tooming, Neeme Tõnisson, Margit Nõukas, Miriam Nurm, Estonian Biobank Research Team, Hanno Roomere, Kadri Rekker, Kadri Toome and 10 more

Open access · goldAbstract readReview
In one paragraph

Review in Cancers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.8field-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

8 citing papers in PubMed, 7 citations in OpenAlex.

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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

20 authors at 3 institutions in 1 country.

Laura RohtDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.
Piret LaidreDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Mikk ToomingDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.
Neeme TõnissonDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Margit NõukasEstonian Biobank, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Miriam NurmEstonian Biobank, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Estonian Biobank Research TeamEstonian Biobank, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Hanno RoomereDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Kadri RekkerDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Kadri ToomeDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Olga FjodorovaDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Ülle MurumetsDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Ustina ŠamarinaDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Sander PajusaluDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.
Anu AaspõlluAsper Biogene LLC, 50410 Tartu, Estonia.
Liis SalumäePathology Service, Tartu University Hospital, 50406 Tartu, Estonia.
Kristina MuhuEstonian Unemployment Insurance Fund, 10142 Tallinn, Estonia.
Jaan SoplepmannDepartment of Surgical and Gynecological Oncology, Surgery Clinic, Tartu University Hospital, 50406 Tartu, Estonia.
Katrin ÕunapDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.ORCID 0000-0002-4594-6364
Tiina KahreDepartment of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.ORCID 0009-0007-4399-354X
Tartu University Hospital · EEEstonian Biocentre · EEAsper Biotech (Estonia) · EE

Funding

EIT Health BRIGHT innovation activity project #220720Estonian Research Council PRG471Estonian Research Council PRG555
6 · The paper itself

Abstract

backgroundLynch syndrome (LS) is the most frequent genetically pre-disposed colorectal cancer (CRC) syndrome, accounting for 2-3% of all CRC cases. In Estonia, ~1000 new cases are diagnosed each year. This retroactive and prospective study aimed to estimate the prevalence of LS and describe disease-causing variants in mismatch repair (MMR) genes in a diagnostic setting and in the Estonian general population.

methodsLS data for the diagnostic cohort were gathered from 2012 to 2022 and data for the general population were acquired from the Estonian Biobank (EstBB). Furthermore, we conducted a pilot study to estimate the improvement of LS diagnostic yield by raising the age limit to >50 years for immunohistochemistry analysis of MMR genes.

resultsWe estimated LS live birth prevalence between 1930 and 2003 in Estonia at 1:8638 (95% CI: 1: 9859-7588). During the study period, we gathered 181 LS individuals. We saw almost a six-fold increase in case prevalence, probably deriving from better health awareness, improved diagnostic possibilities and the implementation of MMR IHC testing in a broader age group.

conclusionThe most common genes affected in the diagnostic and EstBB cohorts were

Indexed as

cancer geneticsimmunohistochemistry (IHC)Lynch syndromemismatch repair (MMR) genes

Identifiers

PMID37509324
PMCPMC10377710
OpenAlexW4384825246

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.