Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.

Background: To study BRCA1/2 gene variants in La Rioja in the northcentral area of Spain.

Methods: We performed a molecular analysis of BRCA1 and BRCA2 in 642 individuals from 427 different families from June 2008 to December 2019.

Results: We identified 71 families with pathogenic variants in these genes, 32 families with BRCA1 variants and 39 families with BRCA2 variants.

Impact of laboratory involvement in the characterization of B12 hypervitaminosis in clinical practice.

Objectives: Unexplained B12 hypervitaminosis (HB12) in asymptomatic patients leads to a cascade of medical consultations and diagnostic tests aimed at determining its etiology. The objective of this study was to assess the efficacy of the laboratory getting involved in the detection and elimination of immune complexes with vitamin B12 in clinical practice and its economic impact.

Methods: A retrospective longitudinal study was undertaken to assess the laboratory strategy of detecting B12 macrovitamin (macro-B12) in patients with HB12 >1,000 pg/mL.

Identification of a novel HLA-C*07 allele, HLA-C*07:943, in a Spanish individual.

HLA-C*07:943 differs from C*07:01:01:01 at positions 648 (c.648C > T) and 652 (c.652C > G) in exon 4.

Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition. Classical A-T is caused by biallelic variants on ATM (ataxia telangiectasia mutated) gene, leading to a loss of function of the protein kinase ATM, involved in DNA damage repair. Atypical presentations can be found in A-T-like disease or in Nijmegen breakage syndrome, caused by deficiency of mre11 or nibrin proteins, respectively.