Optimization of the fragment analysis technique to evaluate splicing events of the BRCA2 gene

Identifier:  TFG:5928

Handle: https://hdl.handle.net/20.500.11797/TFG5928

Authors:  Gómez Fernández, Paula

Abstract:
Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited genetic condition mostly caused by variants in the BRCA1 and BRCA2 genes, although other genes can also occur. Genetic testing is recommended for people who have a family history of these types of cancers. The BRCA1 and BRCA2 genes play a fundamental role in DNA repair and cell cycle control, therefore, any affectation in any of these processes can trigger the variant to end up being pathogenic. Specifically in BRCA2, genetic alterations have been described that are located in the exon-intron junction zones and that can affect the correct transcription of the gene and consequently the normal functionality of the protein. These are called genetic variants of the splicing type (mRNA maturation process in which all introns are eliminated). However, each gene can give rise to several different RNA molecules thanks to alternative splicing. For this reason, computational studies are needed to predict the pathogenic effect of variants and identify them in the splicing process. The most standardized are mRNA sequencing and analysis of fragments generated from this mRNA.