000151041 001__ 151041
000151041 005__ 20250221105703.0
000151041 0247_ $$2doi$$a10.3390/jcm14020367
000151041 0248_ $$2sideral$$a142942
000151041 037__ $$aART-2025-142942
000151041 041__ $$aeng
000151041 100__ $$aBlanco Abad, Carmen$$uUniversidad de Zaragoza
000151041 245__ $$aHereditary Pancreatic Cancer: Advances in Genetic Testing, Early Detection Strategies, and Personalized Management
000151041 260__ $$c2025
000151041 5060_ $$aAccess copy available to the general public$$fUnrestricted
000151041 5203_ $$aBackground: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy with a five-year survival rate of approximately 13% for advanced stages. While the majority of PDAC cases are sporadic, a significant subset is attributable to hereditary and familial predispositions, accounting for approximately 25% of cases. This article synthesizes recent advancements in the understanding, detection, and management of hereditary pancreatic cancer (PC). Results: Our review highlights the critical role of genetic testing (GT) in identifying high-risk individuals (HRIs), with germline pathogenic variants (PVs) found in up to 20% of hereditary PDAC cases. Since the implementation of next-generation sequencing (NGS) panels in 2014, detection capabilities have been significantly enhanced. HRIs can be included in screening programs that facilitate the early detection of PDAC. Early detection strategies, including the use of microribonucleic acid (miRNAs) signatures and novel imaging techniques like hyperpolarized 13C-magnetic resonance spectroscopy (MRS) have shown promising results. The identification of germline pathogenic variants (PVs) or mutations in homologous recombination (HR) genes plays a predictive role in the response to various treatments, prolonging patient survival. Discussion: Universal germline testing for PDAC, as recommended by the National Comprehensive Cancer Network (NCCN), is now a standard practice, facilitating the identification of at-risk individuals and enabling targeted surveillance and intervention. Multidisciplinary management, integrating genetic counseling, imaging, and gastrointestinal services, is essential for optimizing outcomes. Conclusions: Advances in genetic testing and biomarker research are transforming the landscape of hereditary PC management. Early detection and personalized treatment strategies are pivotal in improving survival rates. Ongoing multi-institutional research efforts are crucial for validating biomarkers and developing preventive measures, ultimately aiming to reduce the burden of this aggressive cancer.
000151041 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000151041 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000151041 700__ $$aGomila Pons, Paula
000151041 700__ $$aCampos Ramírez, Sara
000151041 700__ $$aÁlvarez Alejandro, María
000151041 700__ $$0(orcid)0000-0003-3387-0558$$aTorres Ramón, María Irene
000151041 700__ $$aMiramar Gallart, María Dolores$$uUniversidad de Zaragoza
000151041 700__ $$0(orcid)0000-0002-7615-2399$$aIzquierdo Álvarez, Silvia$$uUniversidad de Zaragoza
000151041 700__ $$aPolo Marqués, Eduardo
000151041 700__ $$0(orcid)0000-0002-8026-7391$$aPazo Cid, Roberto$$uUniversidad de Zaragoza
000151041 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000151041 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000151041 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000151041 773__ $$g14, 2 (2025), 367 [19 pp.]$$pJ. clin.med.$$tJournal of Clinical Medicine$$x2077-0383
000151041 8564_ $$s894160$$uhttps://zaguan.unizar.es/record/151041/files/texto_completo.pdf$$yVersión publicada
000151041 8564_ $$s2691777$$uhttps://zaguan.unizar.es/record/151041/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000151041 909CO $$ooai:zaguan.unizar.es:151041$$particulos$$pdriver
000151041 951__ $$a2025-02-21-09:53:06
000151041 980__ $$aARTICLE