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Analysis of institutional authors

Rofes, PAuthorDueñas, NAuthorDel Valle, JAuthorNavarro, MAuthorGonzalez, SAuthorBrunet, JAuthorCapella, GAuthorLazaro, CAuthorPineda, MCorresponding Author

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May 27, 2024
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Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation

Publicated to: Cancer Medicine. 13 (7): e7041- - 2024-04-01 13(7), DOI: 10.1002/cam4.7041

Authors:

Rofes, P; Dueñas, N; del Valle, J; Navarro, M; Balmaña, J; Ramón y Cajal, T; Tuset, N; Castillo, C; González, S; Brunet, J; Capellá, G; Lázaro, C; Pineda, M
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Affiliations

Arnau de Vilanova Univ Hosp, Med Oncol Dept - Author
Catalan Inst Oncol IDIBGi, Hereditary Canc Program - Author
Catalan Inst Oncol, Hereditary Canc Program, IDIBELL, Av Gran Via 199-203 - Author
Catalan Inst Oncol, Inst Invest Biomed Bellvitge IDIBELL, Hereditary Canc Program, Mol Mech & Expt Therapy Oncol Program - Author
Ctr Invest Biomed Red Canc CIBERONC - Author
Hosp Santa Creu & Sant Pau, Med Oncol Dept - Author
Vall dHebron Hosp, Vall dHebron Inst Oncol VHIO, Hereditary Canc Genet Grp - Author
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Abstract

Background: Up 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. Methods: Here, 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.
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Keywords

AdultAgedAlgorithmArticleBrain neoplasmsBrain tumorClinical managementColorectal neoplasmsColorectal neoplasms, hereditary nonpolyposisColorectal tumorColorectal-cancerDna mismatch repairDna mismatch repair protein msh2Endometrium cancerEpithelial cell adhesion moleculeFemaleGeneGene amplificationGene frequencyGenetic screeningGeneticsGerm-line mutationGermline mutationGuidelinesHereditary nonpolyposis colorectal cancerHereditary tumor syndromeHigh throughput sequencingHumanHuman tissueHumansImmunohistochemistryLynch syndromeLynch-like syndromeLynch‐like syndromeMajor clinical studyMaleMicrosatellite instabilityMismatch repairMismatch repair genesMismatch repair protein pms2Mismatch repair-deficiencyMismatch repair‐deficiencyMosaicismMutationsMutl protein homolog 1Neoplastic syndromes, hereditaryOvary cancerPathologyProtein msh6Sanger sequencingStomach cancerTransitional cell carcinomaTumor testingVariants

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Cancer Medicine due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Radiology, Nuclear Medicine and Imaging.

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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-06:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 10.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 10 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (ROFES TORRES, PAULA) and Last Author (PINEDA RIU, MARTA).

the author responsible for correspondence tasks has been PINEDA RIU, MARTA.

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