Dokumentdetails
ID
doi:10.1007/s10689-024-00397-w...
Autor
Cristina-Marianini-Rios Sanchez, María E. Castillo Paredes, Ana García García Rodríguez, Mercedes Barreto, Emma López, Jorge Villalón Fuentes, Raquel Beltrán, María Muñoz Sanjuanbenito, Alfonso Lobo, Eduardo Caminoa, Alejandra Ruz-Caracuel, Ignacio Durán, Sergio López Olcina, José Ramón Foruny Blázquez, Javier Sequeros, Enrique Vázquez Carrato, Alfredo Ávila, Jose Carlos Martínez Earl, JulieLangue
enEditor
Springer
Kategorie
Epidemiology
Jahr
2024
Auflistungsdatum
29.05.2024
Schlüsselwörter
pancreatic cancer genetic cancer risk heritability high-risk screening individuals blup pancreatic pdac cancerZusammenfassung
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.
Cristina-Marianini-Rios,Sanchez, María E. Castillo,Paredes, Ana García García,Rodríguez, Mercedes,Barreto, Emma,López, Jorge Villalón,Fuentes, Raquel,Beltrán, María Muñoz,Sanjuanbenito, Alfonso,Lobo, Eduardo,Caminoa, Alejandra,Ruz-Caracuel, Ignacio,Durán, Sergio López,Olcina, José Ramón Foruny,Blázquez, Javier,Sequeros, Enrique Vázquez,Carrato, Alfredo,Ávila, Jose Carlos Martínez,Earl, Julie, 2024, 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, Springer
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