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.

OBJECTIVE: Dendritic cell nuclear protein-1 (DCNP1) has been associated with major depressive disorder (MDD) based on analysis of a population of patients in the United Kingdom. In the present study we have investigated a possible role of DCNP in MDD in the Han Chinese population, including a meta-analysis of different ethnic populations.
METHODS: Eight single nucleotide polymorphisms (SNPs) spanning the entire DCNP1 were carefully selected, genotyped and used for the SNP and haplotype analyses in 574 patients with MDD and 642 healthy controls. Considering the potential genetic association difference across different ethnic populations, we further conducted a meta-analysis for Chinese and European populations.
RESULTS: rs10061623 showed initial association with MDD in females in the allele analysis (p-value: 0.043). However, this association did not remain significant after Bonferroni correction to adjust for multiple comparisons (corrected p-value: 0.344). Other single-marker and haplotype analyses did not reveal any significant differences between patients and controls. The SNP (rs12520799), positive in the original UK study, gave negative results in all our analyses. The meta-analysis results of rs12520799 also suggested possible negative association between this SNP and MDD in the Han Chinese population.
CONCLUSIONS: In the Han Chinese population, common DCNP1 polymorphisms are unlikely to be important in the genetic susceptibility to MDD.