Novel Candidate <i>loci</i> and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing

Novel Candidate <i>loci</i> and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing

The familial occurrence of hematological malignancies has been underappreciated. Recent studies suggest that up to 15% of adults with myeloid neoplasms carry germline pathogenic variants in cancer-predisposing genes. This study aimed to identify the underlying germline predisposition variant in pati...

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Bibliographic Details
Main Authors: Cristina Andrés-Zayas, Julia Suárez-González, María Chicano-Lavilla, Mariana Bastos Oreiro, Gabriela Rodríguez-Macías, Patricia Font López, Santiago Osorio Prendes, Gillen Oarbeascoa Royuela, Patricia García Ramírez, Rocío Nieves Salgado, Ignacio Gómez-Centurión, Diego Carbonell Muñoz, Paula Muñiz, Mi Kwon, José Luis Díez-Martín, Ismael Buño, Carolina Martínez-Laperche
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Cancers
Subjects:
predisposition syndromes
whole-exome sequencing
cancer susceptibility
hematological malignancies
germline mutation
Online Access:https://www.mdpi.com/2072-6694/15/3/944

Internet

https://www.mdpi.com/2072-6694/15/3/944

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