RESUMEN
The singular BRCA1/2 mutational landscape of Asturias is updated 10 years after the first study. We analyzed BRCA1 and BRCA2 pathogenic variants in 1653 index cases. In total, 238 families were identified to carry a pathogenic variant, 163 families in BRCA1 and 75 families in BRCA2. This yielded a prevalence rate of 14.4%. Seven recurrent variants were found accounting for 55% of the cases. Among them, three are widely distributed (BRCA1 c.211A>G, c.470_471del and c.3331_3334del) and four had been reported as novel in Asturias: two in BRCA1 (c.1674del and c.2901_2902dup) and two in BRCA2 (c.2095C>T and c.4040_4035delinsC). A common haplotype was established for all recurrent variants indicating a shared ancestral origin. Three splicing analyses are shown: BRCA1:c.5152+3A>C and BRCA1:c.5333-3T>G that lead to skipping of exon 18, and 22 respectively, and BRCA1:c.5278-1G>T giving rise to two transcripts, one lacking exon 21 (p.Ille1760Glyfs*60) and one lacking the first 8 nucleotides of exon 21 (p.Phe1761Asnfs*14), supporting pathogenicity for these variants.
Asunto(s)
Proteína BRCA1 , Proteína BRCA2 , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Mutación de Línea Germinal/genética , España/epidemiología , Proteína BRCA1/genética , Femenino , Proteína BRCA2/genética , Adulto , Persona de Mediana Edad , Haplotipos/genética , Linaje , Exones/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/epidemiología , MasculinoRESUMEN
Dating violence (DV) is a social problem that affects adolescents worldwide. Prevalence figures show that this type of violence is starting at an increasingly younger age, which is why it is important to study attitudes toward DV, as they are an important risk factor. Victim-blaming attitudes justify this type of violence by excusing perpetrators and blaming victims. The present study aimed to validate an instrument developed to assess victim-blaming attitudes in DV cases among the adolescent population: The Adolescent Dating Violence Victim-Blaming Attitudes Scale (ADV-VBA). Two samples of high school students were recruited using a two-stage stratified sampling by conglomerates, one consisting of 758 adolescents (48% females) and the other of 160 (50% females), whose ages ranged from 12 to 18 years. We found that this instrument presented good reliability and validity evidence, showing good internal consistency, a clear one-factor latent structure, and a close relation to other related constructs, such as ambivalent sexism and perpetration and victimization of DV. We also found that items did not present differential item functioning across gender and the instrument was especially informative for assessing moderate to high levels of victim-blaming attitudes. A short five-item version is also presented for use when time and space constraints exist. Our results indicate that the ADV-VBA scale is a psychometrically sound measure to assess victim-blaming attitudes in cases of adolescent DV.
