Evidence map›Paper›PMID 38558366›Full record

ArticleCancer medicine2024

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Paula Rofes, Núria Dueñas, Jesús Del Valle, Matilde Navarro, Judith Balmaña, Teresa Ramón Y Cajal, Noemí Tuset, Carmen Castillo, Sara González, Joan Brunet and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer medicine, 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
0.8field-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

1 citing paper in PubMed, 2 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

13 authors at 4 institutions in 2 countries.

Paula RofesHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.ORCID 0000-0001-6045-7879
Núria DueñasHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.ORCID 0000-0001-6624-3265
Jesús Del ValleHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Matilde NavarroHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Judith BalmañaHereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Hospital, Barcelona, Spain.
Teresa Ramón Y CajalMedical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Noemí TusetMedical Oncology Department, Arnau de Vilanova University Hospital, Lleida, Spain.
Carmen CastilloHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Sara GonzálezHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Joan BrunetHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Gabriel CapelláHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Conxi LázaroHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Marta PinedaHereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Institut d'Investigació Biomédica de Bellvitge · ESHebron University · PSHospital de Sant Pau · ESHospital Universitari Arnau de Vilanova · ES

Funding

Carlos III National Health Institute PI19/00553Carlos III National Health Institute PID2019-111254RB-I00Generalitat de Catalunya 2021SGR01112Ministerio de Ciencia e Innovación
6 · The paper itself

Abstract

backgroundUp to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial. Our aim is to assess the challenges associated with the implementation of tumoral MMR gene testing in routine workflows.

methodsHere, we present the clinical characterization of 229 LLS patients. MMR gene testing was performed in 39 available tumors, and results were analyzed using two variant allele frequency (VAF) thresholds (≥5% and ≥10%). RESULTS AND DISCUSSION: More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.

Indexed as

Brain NeoplasmsColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisNeoplastic Syndromes, HereditaryDNA Mismatch RepairGerm-Line MutationHumansclinical managementLynch‐like syndromeLynch syndromemismatch repair‐deficiencymismatch repair genestumor testing

Identifiers

PMID38558366
PMCPMC10983805
OpenAlexW4393377818

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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.