Autor según el artículo: Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
Departamento: Medicina i Cirurgia
Autor/es de la URV: BORRAS BALADA, JOAN LLUÍS / Gumà Padró, José / Martorell Bonet, Lourdes / RODRÍGUEZ BALADA, MARTA / Roig Bourgine, Barbara / Vilella Cuadrada, Elisabet
Palabras clave: Variants of unknown significance Splicing Cdna Cancer genetic counseling Brca2 Brca1 splicing cdna cancer genetic counseling brca2 brca1
Resumen: © 2016 Elsevier Inc. Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combination of in silico prediction and cDNA splicing analyses of 13 BRCA1 and 10 BRCA2 VUS identified in our cohort as well as a case-control analysis in a population-based sample of 10 recurrent VUS. We observed consistent results between the in silico predictions and sequencing analyses for all analyzed VUS. An abnormal cDNA pattern was observed for variants c.212+1G>A and c.5278-1G>A in BRCA1 and c.516+2T>A and c.8168A>G in BRCA2 according to in silico splicing prediction. A case-control study of VUS confirmed the polymorphisms of the c.67+62A>G, c.7008-62A>G and c.8851G>A BRCA2 variants previously published. c.4068G>A in the BRCA2 gene can also be considered a polymorphism due to its occurrence at a frequency greater than 1% in our population. Our study shows that employing population-based analysis and a combination of several in silico methods yields highly accurate information, resulting in a reliable tool for selecting variants for cDNA sequencing analysis in routine cancer genetic counseling units.
Áreas temáticas: Oncology Odontología Molecular biology Medicina iii Medicina ii Medicina i Genetics & heredity Genetics General medicine Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Cancer research Biotecnología Biodiversidade
Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
ISSN: 22107762
Direcció de correo del autor: lourdes.martorell@urv.cat elisabet.vilella@urv.cat barbara.roig@urv.cat jose.guma@urv.cat
Identificador del autor: 0000-0003-4999-2197 0000-0002-1887-5919 0000-0001-7541-9832
Fecha de alta del registro: 2024-09-07
Versión del articulo depositado: info:eu-repo/semantics/acceptedVersion
Enlace a la fuente original: https://www.cancergeneticsjournal.org/article/S2210-7762(16)30234-4/fulltext#%20
URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: Cancer Genetics. 209 (11): 487-492
Referencia de l'ítem segons les normes APA: Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J (2016). In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. Cancer Genetics, 209(11), 487-492. DOI: 10.1016/j.cancergen.2016.09.003
DOI del artículo: 10.1016/j.cancergen.2016.09.003
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2016
Tipo de publicación: Journal Publications
Repositori URV