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Grant support

Laura Valle's group receives funding from the Spanish Ministry of Science and Innovation, co-funded by FEDER funds [SAF2016-80888-R and predoctoral fellowship to IQ]; Instituto de Salud Carlos III [CIBERONC CB16/12/00234 and Sara Borrell contract (PM)]; Government of Catalonia [AGAUR 2017SGR1282, CERCA Program]; Fundacion Olga Torres; and Scientific Foundation Asociacion Espanola Contra el Cancer [AECC Investigador contract (MT)]. Francesc Balaguer's group receives funding from the Instituto de Salud Carlos III, cofunded by FEDER funds [PI16/00766; PI19/01867]. This study was facilitated by COST Action CA17118, supported by COST (European Cooperation in Science and Technology).

Analysis of institutional authors

Quintana, IAuthorTerradas, MAuthorMur, PAuthorValle, LCorresponding Author

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April 19, 2021
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The Inherited and Familial Component of Early-Onset Colorectal Cancer

Publicated to:Cells. 10 (3): 710- - 2021-03-01 10(3), DOI: 10.3390/cells10030710

Authors: Alvarez, MD; Quintana, I; Terradas, M; Mur, P; Balaguer, F; Valle, L

Affiliations

‎ Bellvitge Biomed Res Inst IDIBELL, Oncobell Program, Catalan Inst Oncol, Hereditary Canc Program, Barcelona 08908, Spain - Author
‎ Ctr Invest Biomed Red Canc CIBERONC, Madrid 28029, Spain - Author
‎ Ctr Invest Biomed Red Enfermedades Hepat & Digest, Madrid 28029, Spain - Author
‎ Univ Barcelona, Inst Invest Biomed August Pi i Sunyer IDIBAPS, Hosp Clin Barcelona, Dept Gastroenterol, Barcelona 08036, Spain - Author

Abstract

Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, approximate to 13% (range: 9-26%) of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% of patients with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. Approximately 28% of EOCRC patients have family history of the disease. This article recapitulates current evidence on the inherited syndromes that predispose to EOCRC and its familial component. The evidence gathered support that all patients diagnosed with an EOCRC should be referred to a specialized genetic counseling service and offered somatic and germline pancancer multigene panel testing. The identification of a germline pathogenic variant in a known hereditary cancer gene has relevant implications for the clinical management of the patient and his/her relatives, and it may guide surgical and therapeutic decisions. The relative high prevalence of hereditary cancer syndromes and familial component among EOCRC patients supports further research that helps understand the genetic background, either monogenic or polygenic, behind this increasingly common disease.

Keywords

cancer geneticscancer syndromecolorectal cancer predispositionhereditary cancerlynch syndromeAge of onsetAlleleAllelesB raf kinaseCancer chemotherapyCancer geneticsCancer patientCancer screeningCancer surgeryCancer susceptibilityCancer syndromeChemoprophylaxisColonoscopyColorectal cancerColorectal cancer predispositionColorectal neoplasmsColorectal tumorCrispr cas systemDisease predispositionDna damageDna replicationFamilyGene frequencyGene mutationGenetic backgroundGenetic counselingGenetic predispositionGenetic predisposition to diseaseGenetic risk scoreGenetic screeningGeneticsHereditary cancerHistologyHumanHumansInheritanceInheritance patternsK ras proteinLynch syndromeMicrosatellite instabilityMismatch repairNicotinamide adenine dinucleotide adenosine diphosphate ribosyltransferase inhibitorNonhumanOnset agePathologyPolygenic risk scorePrevalenceProtein expressionReviewRisk assessmentRisk factorSignal transductionSomatic mutationTumor suppressor geneVaccinationWhole exome sequencing

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Cells 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, 2021, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Biochemistry, Genetics and Molecular Biology (Miscellaneous).

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 1.76. This 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: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Weighted Average of Normalized Impact by the Scopus agency: 2.8 (source consulted: FECYT Feb 2024)
  • Field Citation Ratio (FCR) from Dimensions: 17.58 (source consulted: Dimensions Aug 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-08-02, the following number of citations:

  • WoS: 42
  • Scopus: 49
  • Europe PMC: 26

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 2025-08-02:

  • 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: 95.
  • 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: 99 (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: 37.05.
  • The number of mentions on the social network X (formerly Twitter): 53 (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.

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: Last Author (Valle Velasco, Laura).

the author responsible for correspondence tasks has been Valle Velasco, Laura.