The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is an autosomal dominant disease caused by germline mutations in BRCA1 (17q21) and BRCA2 (13q12) genes. The identification of BRCA1/2 genes has represented a great advance in the management of families with HBOC allowing carriers to follow up personalized and early detection of tumors at a very early stage.
Descriptive study of the Canarian families with mutation in BRCA1/2, analyzing clinical, anatomopathological and resulting parameters of the genetic analysis. The screening of point mutations was performed in all exons encoders and adjacent intron sequences by HRM (High Resolution Melting) and subsequent characterization of the patterns altered by sequencing direct. The study of large genomic rearrangements was carried out by MLPA (Multiplex Ligation-dependent Probe Amplification).
Of the 611 families evaluated in the hereditary cancer clinic, 385 have genetic test completed. 55 families have been identified with a pathogenic mutation (14.2%); 36 different mutations (19 in BRCA1 (32 families) and 17 in BRCA2 (23 families). The spectrum of pathogenic mutations identified in the BRCA1 gene suggested strong founder effects on the island of Gran Canaria, where we have detected a recurrent mutation [c.3582-3589del8] (p.His1195PhefsTer21)] that explains more than 70% of families with mutation in BRCA1.
The percentage of pathogenic mutations in Canary HBOC families was 14.2%, similar to that detected in other populations. However, our data showed the presence of a founding mutation which explains more than 70% of our families in Gran Canaria with mutation in BRCA1, which could help us to optimize the algorithms for the study of mutations in these genes.
Clinical trial identification
Legal entity responsible for the study
Elisenda Llabrés Valentí.
Has not received any funding.
All authors have declared no conflicts of interest.