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

ABSTRACT:

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. The pathogenic variants c.959delG in BRCA1 and c.1363_1369delTCAGAGA, c.1397dupA, c.4234_4236delACTinsC and c.8387delC in BRCA2 have not been previously described. The c.81-2 A > T variant in BRCA1, detected in two unrelated families, has not been reported previously in the Spanish population. Two large genomic deletions were found in the BRCA1 gene in exons (Ex) 23-24 and Ex1A-1B-2, and one deletion

SUBMITTER: Salazar Saez R 

PROVIDER: S-EPMC11495111 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature