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Analysis of institutional authors

Llach Vila, JosepAuthorSanchez AAuthorCuatrecasas MAuthorBofill AAuthorCarballal SAuthorLlach JAuthorHerrera-Pariente CAuthorRivero-Sánchez LAuthorJung GAuthorMoreno LAuthorOcaña TAuthorBayarri CAuthorPellise MAuthorCastells AAuthorCastellvi-Bel SAuthorBalaguer FAuthorMoreira LCorresponding Author

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December 28, 2021
Publications
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Article

Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma

Publicated to: Cancers. 13 (24): 6378- - 2021-12-01 13(24), DOI: 10.3390/cancers13246378

Authors:

Sanchez, Ariadna; Bujanda, Luis; Cuatrecasas, Miriam; Bofill, Alex; Alvarez-Urturi, Cristina; Hernandez, Goretti; Aguilera, Lara; Carballal, Sabela; Llach, Joan; Herrera-Pariente, Cristina; Iglesias, Mar; Rivero-Sanchez, Liseth; Jung, Gerhard; Moreno, Lorena; Ocana, Teresa; Bayarri, Carolina; Pellise, Maria; Castells, Antoni; Castellvi-Bel, Sergi; Balaguer, Francesc; Moreira, Leticia
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Affiliations

Barcelona Hosp del Mar, IMIM Hosp del Mar Med Res Inst, Dept Gastroenterol, Barcelona 08003, Spain - Author
Barcelona Hosp del Mar, IMIM Hosp del Mar Med Res Inst, Dept Pathol, Barcelona 08003, Spain - Author
Hosp Univ Canarias, Dept Gastroenterol, Tenerife 38320, Spain - Author
Univ Barcelona, Ctr Invest Biomed Red Enfermedades Hepat & Digest, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Dept Gastroenterol,Hosp Clin Barcelona, Barcelona 08036, Spain - Author
Univ Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Dept Pathol,Hosp Clin Barcelona, Barcelona 08036, Spain - Author
Univ Pais Vasco UPV EHU, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Dept Gastroenterol, Biodonostia Hlth Res Inst, San Sebastian 20014, Spain - Author
Vall dHebron Res Inst, Dept Gastroenterol, Barcelona 08035, Spain - Author
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Abstract

Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas.A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors.A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%.More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families.
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Keywords

cancerepidemiologyhereditary cancersmall bowel adenocarcinomaHereditary cancerLynch syndromeMicrosatellite instabilitySmall bowel adenocarcinoma

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Cancers 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, 2021, it was in position 60/245, thus managing to position itself as a Q1 (Primer Cuartil), in the category Oncology.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-04:

  • WoS: 3
  • Scopus: 1
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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 2026-04-04:

  • 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: 11.
  • 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: 11 (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: 16.
  • The number of mentions on the social network X (formerly Twitter): 23 (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 (Sánchez Garcia, Ariadna) and Last Author (Moreira Ruiz, Leticia).

the author responsible for correspondence tasks has been Moreira Ruiz, Leticia.

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Awards linked to the item

This study was funded by the CERCA Program (Generalitat de Catalunya) and Agencia de Gestio dAjuts Universitaris i de Recerca (Generalitat de Catalunya, GRPRE 2017SGR21, GRC 2017SGR653). CIBEREHD is funded by the Instituto de Salud Carlos III.
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