The utility of sufficiently informative protein multiple sequence alignment for cancer risk assessment OF BRCA2 missense substitutions

Համառոտագիր

Although the breast cancer risk, that is specific to BRCA1 and BRCA2 genes, is similar one to another, the analysis of missense substitutions has focused mainly on BRCA1. However, more than 40% of BRCA2 full-sequence tests in which a reportable DNA sequence variant is found present unclassified missense variants. The results of this study present amino acid sequence conservation across BRCA2 protein using protein multiple sequence alignment of 12 BRCA2 orthologs capturing enough evolutionary time to predict the role of unclassified missense variants of BRCA2 gene on BRCA2 protein function by means of bioinformatics analysis.