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Roca Lecumberri, AlbaAuthorCastells, AAuthorCastellvi-Bel, SAuthor
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Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway

Publicated to:Clinical Cancer Research. 11 (20): 7304-7310 - 2005-10-15 11(20), DOI: 10.1158/1078-0432.CCR-05-0965

Authors: Llor, X; Pons, E; Xicola, RM; Castells, A; Alenda, C; Piñol, V; Andreu, M; Castellví-Bel, S; Payá, A; Jover, R; Bessa, X; Girós, A; Roca, A; Gassull, MA

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Universitat Autònoma de Barcelona - Author

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer. Whereas it has been known that mismatch repair gene mutations are the underlying cause of HNPCC, an undetermined number of patients do not have these alterations. The main objectives of this study were to assess the relevance of clinically defined HNPCC patients without characteristic mutator pathway alterations and to identify their specific features.This was a prospective, population-based, cohort that included 1,309 newly diagnosed colorectal cancer patients. Demographic, clinical, pathologic data and tumor DNA from probands as well as a detailed family history were collected. Microsatellite analysis and MLH1, MSH2, and MSH6 immunohistochemistry were done. Germ line MLH1 and MSH2 mutational analysis was done in all patients with evidence of MMR alterations.Twenty-five patients (1.9%) fulfilled Amsterdam criteria of HNPCC but 15 (60%) of them did not have microsatellite instability and showed normal expression of MMR proteins. These patients presented mostly left-sided tumors without lymphocytic infiltrate; they were older, had fewer family members affected with colorectal or endometrial cancers, and more often fulfilled Amsterdam II criteria than HNPCC patients with microsatellite instability. Like unstable HNPCC patients, this group without mutator pathway alterations had a significant percentage of synchronous and metachronous adenomatous polyps and cancers.We define an important group of HNPCC families with specific features, no evidence of mismatch repair deficiency, and an autosomal dominant trait with a lesser penetrance than HNPCC with deficiency.

Keywords
braf mutationdna mismatch repairimmunohistochemistrylynch-syndromemicrosatellite instabilitymlh1msh2nonpolyposis colon-cancerpolyposisAdaptor proteins, signal transducingAgedAged, 80 and overAnalysisCarrier proteinsCohort studiesColorectal neoplasmsColorectal neoplasms, hereditary nonpolyposisDna mutational analysisDna-binding proteinsFemaleG-t mismatch-binding proteinGerm-line mutationHumansImmunohistochemistryMaleMetabolismMicrosatellite repeatsMiddle agedMlh1 protein, humanMsh2 protein, humanMutationMutl protein homolog 1Muts homolog 2 proteinNuclear proteinsProspective studiesRevised bethesda guidelinesSpain

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Clinical Cancer Research due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2005, it was in position 15/121, thus managing to position itself as a Q1 (Primer Cuartil), in the category Oncology.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 12.82, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-23, the following number of citations:

  • WoS: 98
  • Scopus: 111
  • Europe PMC: 73
  • Google Scholar: 150
  • OpenCitations: 112
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 2025-05-23:

  • 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: 42.
  • 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: 42 (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: 6.
Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United States.