Evidence map›Paper›PMID 41772283›Full record

ArticleEuropean journal of human genetics : EJHG2026

Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.

Linda Battistuzzi, Eva Blondeaux, Alberto Puccini, Luca Boni, Federica Grillo, Lucia Trevisan, Liliana Varesco, Stefania Sciallero

Abstract readScoping Review
In one paragraph

Article in European journal of human genetics : EJHG, 2026. 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
–field-weighted citation impact
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. Outcomes of 'in-house' genetic testing within a specialist hereditary colorectal cancer registry.Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland · 2026
    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

8 authors.

Linda BattistuzziMedical Oncology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy. linda.battistuzzi@unige.it.ORCID http://orcid.org/0000-0003-2340-3059
Eva BlondeauxClinical Epidemiology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Alberto PucciniDepartment of Biomedical Sciences, Humanitas University, Milan, Italy.
Luca BoniClinical Epidemiology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Federica GrilloAnatomic Pathology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Lucia TrevisanHereditary Cancer Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Liliana VarescoHereditary Cancer Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Stefania ScialleroMedical Oncology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Patients with colorectal cancer (CRC) and Lynch syndrome (LS) have elevated cancer risks and require personalized treatment and targeted surveillance. At-risk relatives can also benefit from preventive measures. However, LS remains largely undiagnosed. Integration of universal tumor screening (UTS) with mainstream genetic testing in patients with CRC has been recommended, but implementation of this approach remains inconsistent. This scoping review mapped evidence on barriers and facilitators in diagnostic pathways that integrate UTS and mainstream genetic testing for LS in CRC. A search of MEDLINE, Scopus, CINAHL and PsycINFO was conducted, and five articles were selected. Barriers and facilitators were mapped to the Theoretical Domains Framework (TDF). The most frequently mapped domains were Environmental Context and Resources (in 5/5 articles) Social/Professional Role and Identity, Beliefs about Consequences, Social Influences, and Behavioral Regulation (all in 4/5 articles). Barriers included insufficient clinician education, difficulties in navigating consent processes and interpreting testing results, and perceived lack of evidence demonstrating the benefit of genetic testing. Unclear and conflicting perceptions among different professional groups about who should be responsible for essential components of genetic testing and follow-up also emerged. Social Influences such as strong leadership, collaboration, and networked support from "champions" acted as key facilitators. Mechanisms of Behavioral Regulation, including audit, feedback, and ongoing education, as well as appropriate resourcing, were identified as essential for sustaining practice change. Future studies could usefully explore patients' views and preferences regarding novel diagnostic pathways for LS in CRC that align UTS and mainstream genetic testing, as well as strategies developed and implemented in low-resource settings.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisEarly Detection of CancerGenetic TestingHumans

Identifiers

PMID41772283
PMCPMC13550547

What OpenQuestion holds

Textmetadata
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.