Articles producció científica> Medicina i Cirurgia

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample

  • Identification data

    Identifier: imarina:6388925
    Authors:
    Rodriguez-Balada, MartaRoig, BarbaraMartorell, LourdesMele, MireiaSalvat, MonicaVilella, ElisabetBorras, JoanGuma, Josep
    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.
  • Others:

    Author, as appears in the article.: Rodriguez-Balada, Marta; Roig, Barbara; Martorell, Lourdes; Mele, Mireia; Salvat, Monica; Vilella, Elisabet; Borras, Joan; Guma, Josep
    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: Young adult Variants of unknown significance Splicing Sequence analysis, dna Predictive value of tests Polymorphism, single nucleotide Middle aged In vitro techniques Humans Hereditary breast and ovarian cancer syndrome Genetic counseling Female Early detection of cancer Dna, complementary Dna mutational analysis Computer simulation Computational biology Cdna Case-control studies Cancer genetic counseling Brca2 protein, human Brca2 protein Brca2 Brca1 protein, human Brca1 protein Brca1 Alternative splicing Aged Adult 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: 2025-02-18
    Paper version: info:eu-repo/semantics/acceptedVersion
    Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
    Paper original source: Cancer Genetics. 209 (11): 487-492
    APA: Rodriguez-Balada, Marta; Roig, Barbara; Martorell, Lourdes; Mele, Mireia; Salvat, Monica; Vilella, Elisabet; Borras, Joan; Guma, Josep (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
    Entity: Universitat Rovira i Virgili
    Journal publication year: 2016
    Publication Type: Journal Publications
  • Keywords:

    Cancer Research,Genetics,Genetics & Heredity,Molecular Biology,Oncology
    Young adult
    Variants of unknown significance
    Splicing
    Sequence analysis, dna
    Predictive value of tests
    Polymorphism, single nucleotide
    Middle aged
    In vitro techniques
    Humans
    Hereditary breast and ovarian cancer syndrome
    Genetic counseling
    Female
    Early detection of cancer
    Dna, complementary
    Dna mutational analysis
    Computer simulation
    Computational biology
    Cdna
    Case-control studies
    Cancer genetic counseling
    Brca2 protein, human
    Brca2 protein
    Brca2
    Brca1 protein, human
    Brca1 protein
    Brca1
    Alternative splicing
    Aged
    Adult
    splicing
    cdna
    cancer genetic counseling
    brca2
    brca1
    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
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