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Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
Andrés-Zayas, Cristina; Suárez-González, Julia; Chicano-Lavilla, María; Bastos Oreiro, Mariana; Rodríguez-Macías, Gabriela; Font López, Patricia; Osorio Prendes, Santiago; Oarbeascoa Royuela, Gillen; García Ramírez, Patricia; Nieves Salgado, Rocío; Gómez-Centurión, Ignacio; Carbonell Muñoz, Diego; Muñiz, Paula; Kwon, Mi; Díez-Martín, José Luis; Buño, Ismael; Martínez-Laperche, Carolina.
Afiliação
  • Andrés-Zayas C; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Suárez-González J; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Chicano-Lavilla M; Genomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Bastos Oreiro M; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Rodríguez-Macías G; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Font López P; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • Osorio Prendes S; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Oarbeascoa Royuela G; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • García Ramírez P; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • Nieves Salgado R; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • Gómez-Centurión I; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • Carbonell Muñoz D; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Muñiz P; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
  • Kwon M; Department of Hematology, Hospital Universitario Príncipe de Asturias, 28802 Madrid, Spain.
  • Díez-Martín JL; Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, 28040 Madrid, Spain.
  • Buño I; Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
  • Martínez-Laperche C; Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
Cancers (Basel) ; 15(3)2023 Feb 02.
Article em En | MEDLINE | ID: mdl-36765901
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 patients with a strong family or personal onco-hematological history using whole exome sequencing on sixteen uncharacterized individuals. It was carried out in two groups of patients, one with samples available from two affected relatives (Cohort A) and one with available samples from the index case (Cohort B). In Cohort A, six families were characterized. Two families shared variants in genes associated with DNA damage response and involved in cancer development (CHEK2 and RAD54L). Pathogenic or likely pathogenic germline variants were also found in novel candidate genes (NFATC2 and TC2N). In two families, any relevant pathogenic or likely pathogenic genomic variants were identified. In Cohort B, four additional index cases were analyzed. Three of them harbor clinically relevant variants in genes with a probable role in the development of inherited forms of hematological malignancies (GATA1, MSH4 and PRF1). Overall, whole exome sequencing is a useful approach to achieve a further characterization of these patients and their mutational spectra. Moreover, further investigations may help improve optimization for disease management of affected patients and their families.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Cancers (Basel) Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Cancers (Basel) Ano de publicação: 2023 Tipo de documento: Article