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Analysis of institutional authors

Avila, Jose Carlos MartinezCorresponding Author

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June 2, 2024
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Article

The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants

Publicated to: Familial Cancer. 23 (3): 233-246 - 2024-08-01 23(3), DOI: 10.1007/s10689-024-00397-w

Authors:

Sanchez, MEC; de Paredes, AGG; Rodríguez, M; Barreto, E; López, JV; Fuentes, R; Beltrán, MM; Sanjuanbenito, A; Lobo, E; Caminoa, A; Ruz-Caracuel, I; Durán, SL; Olcina, JRF; Blazquez, J; Sequeros, EV; Carrato, A; Avila, JCM; Earl, J
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Affiliations

Biomed Res Network Canc CIBERONC, Ave Monforte Lemos,3-5 Pabellon 11 Planta 0, Madrid 28029, Spain - Author
Hosp Univ Ramon & Cajal IRYCIS, Med Oncol Dept, Madrid 28034, Spain - Author
Hosp Univ Ramon & Cajal, Dept Pathol, Madrid 28034, Spain - Author
Hosp Univ Ramon & Cajal, Gastroenterol & Hepatol Dept, Madrid, Spain - Author
Hosp Univ Ramon & Cajal, Pancreat & Biliopancreat Surg Unit, Madrid, Spain - Author
Hosp Univ Ramon & Cajal, Radiol Dept, Madrid, Spain - Author
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Madrid, Spain - Author
Pancreat Canc Europe, Brussels, Belgium - Author
Ramon & Cajal Hlth Res Inst IRYCIS, Carretera Colmenar Km 9,100, Madrid 28034, Spain - Author
Univ Alcala, Madrid, Spain - Author
Univ Politecn Madrid, Dept Agr Econ Stat & Business Management, Madrid, Spain - Author
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Abstract

Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death in the Western world. The number of diagnosed cases and the mortality rate are almost equal as the majority of patients present with advanced disease at diagnosis. Between 4 and 10% of pancreatic cancer cases have an apparent hereditary background, known as hereditary pancreatic cancer (HPC) and familial pancreatic cancer (FPC), when the genetic basis is unknown. Surveillance of high-risk individuals (HRI) from these families by imaging aims to detect PDAC at an early stage to improve prognosis. However, the genetic basis is unknown in the majority of HRIs, with only around 10-13% of families carrying known pathogenic germline mutations. The aim of this study was to assess an individual's genetic cancer risk based on sex and personal and family history of cancer. The Best Linear Unbiased Prediction (BLUP) methodology was used to estimate an individual's predicted risk of developing cancer during their lifetime. The model uses different demographic factors in order to estimate heritability. A reliable estimation of heritability for pancreatic cancer of 0.27 on the liability scale, and 0.07 at the observed data scale as obtained, which is different from zero, indicating a polygenic inheritance pattern of PDAC. BLUP was able to correctly discriminate PDAC cases from healthy individuals and those with other cancer types. Thus, providing an additional tool to assess PDAC risk HRI with an assumed genetic predisposition in the absence of known pathogenic germline mutations.
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Keywords

AdultAgedCancerCarcinomaCarcinoma, pancreatic ductalFemaleGenetic cancer riskGenetic predisposition to diseaseGerm-line mutationHeritabilityHigh-risk screeninHigh-risk screeningHumansMaleManagementMiddle agedMixed modelsMutationPancreatic cancerPancreatic neoplasmsProbabilitiesR packageRisk assessment

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Familial Cancer 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 Q2 (Segundo Cuartil), in the category Genetics (Clinical). Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Genetics & Heredity.

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 2026-04-26:

  • WoS: 1
  • Scopus: 1
  • Europe PMC: 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 2026-04-26:

  • 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: 4 (PlumX).

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.
  • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: https://oa.upm.es/88008/

As a result of the publication of the work in the institutional repository, statistical usage data has been obtained that reflects its impact. In terms of dissemination, we can state that, as of

  • Views: 125
  • Downloads: 19
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Leadership analysis of institutional authors

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

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 (Sanchez, Maria E Castillo) and Last Author (Earl, Julie).

the authors responsible for correspondence tasks have been MARTINEZ AVILA, JOSE CARLOS and Earl, Julie.

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Awards linked to the item

This study was funded by the Instituto de Salud Carlos III (Plan Estatal de I + D + i 2013-2016): ISCIII (PI09/02221, PI12/01635, PI15/02101 and PI18/0135) and co-financed by the European Development Regional Fund ''A way to achieve Europe'' (ERDF), the Biomedical Research Network in Cancer: CIBERONC (CB16/12/00446), Red Tematica de investigacion cooperativa en cancer: RTICC (RD12/0036/0073), La Asociacion Espanola contra el Cancer: AECC (Grupos Coordinados Estables 2016), Fundacion Mutua Madrilena (FMM) / XVI Convocatoria de Ayudas a la Investigacion en Salud and Asociacion Cancer de Pancreas (ACanPan); Asociacion Espanola de Pancreatologia (AESPANC) / IV Becas de Investigacion Carmen Delgado/Miguel Perez-Mateo. The funding sources of this study did not play any role in the study design, the collection, analysis and interpretation of the data, in the writing of the manuscript and in the decision to submit the paper for publication.Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature.
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