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http://purl.uniprot.org/citations/28477318http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28477318http://www.w3.org/2000/01/rdf-schema#comment"This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been well characterised. In BRCA1 gene, two novel variants were found (c.1859delT and c.3205C > T) and the most frequently detected mutations were c.68_69delAG, c.212 + 1G > A, c.5123C > A, c.211A > G and c.1918C > T, which together represented 56.67% of total pathogenic mutations. In BRCA2 gene, four recurrent variants were described (deletion of entire exon 2, c.9117G > A, c.3264dupT and c.3455T > G) representing 43.5% of the mutations in this gene. Mutation c.68_69delAG and deletion of entire exon 2 in BRCA1 and BRCA2 genes respectively were the most prevalent variants in our population. Regarding the genotype-phenotype relation, mutation c.212 + 1G > A appeared in an important percentage of breast and ovarian cancer cases, c.5123C > A in bilateral breast cancer and c.9117G > A in bilateral breast cancer and ovarian cancer. With respect to clinical-pathological characteristic, BRCA1/BRCA2 mutation carriers showed earlier onset age of breast tumour and higher risk of developing contra lateral breast cancer than non-informative cases. Moreover, association between either molecular subtype triple negative breast cancer or ovarian cancer and BRCA1 carriers was obtained."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.org/dc/terms/identifier"doi:10.1007/s10689-017-9985-x"xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Ayala de la Pena F."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Aliaga Bano A."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Alonso Romero J.L."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Castillo Guardiola V."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Cuevas Tortosa E."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Gabaldo Barrios X."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Garcia Hernandez M.R."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Macias Cerrolaza J.A."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Marin Vera M."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Martinez Barba E."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Martinez Hernandez P."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Noguera Velasco J.A."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Ruiz Espejo F."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Sanchez Bermudez A.I."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Sanchez Henarejos P."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Sarabia Meseguer M.D."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Tovar Zapata I."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/author"Zafra Poves M."xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/name"Fam Cancer"xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/pages"477-489"xsd:string
http://purl.uniprot.org/citations/28477318http://purl.uniprot.org/core/title"Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers."xsd:string
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