Author, as appears in the article.: Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
Department: Medicina i Cirurgia
URV's Author/s: BORRAS BALADA, JOAN LLUÍS / Gumà Padró, José / Martorell Bonet, Lourdes / RODRÍGUEZ BALADA, MARTA / Roig Bourgine, Barbara / Vilella Cuadrada, Elisabet
Keywords: Variants of unknown significance Splicing Cdna Cancer genetic counseling Brca2 Brca1 splicing cdna cancer genetic counseling brca2 brca1
Abstract: © 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.
Thematic Areas: 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
licence for use: https://creativecommons.org/licenses/by/3.0/es/
ISSN: 22107762
Author's mail: lourdes.martorell@urv.cat elisabet.vilella@urv.cat barbara.roig@urv.cat jose.guma@urv.cat
Author identifier: 0000-0003-4999-2197 0000-0002-1887-5919 0000-0001-7541-9832
Record's date: 2024-09-07
Papper version: info:eu-repo/semantics/acceptedVersion
Link to the original source: https://www.cancergeneticsjournal.org/article/S2210-7762(16)30234-4/fulltext#%20
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Papper original source: Cancer Genetics. 209 (11): 487-492
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
Article's DOI: 10.1016/j.cancergen.2016.09.003
Entity: Universitat Rovira i Virgili
Journal publication year: 2016
Publication Type: Journal Publications
Repositori URV