Article
Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.
Bulletin of experimental biology and medicine - 1 May 2018
Kechin A A, Boyarskikh U A, Ermolenko N A, Tyulyandina A S, Lazareva D G, Avdalyan A M, Tyulyandin S A, Kushlinskii N E, Filipenko M L
Abstract excerpt
Changes (or variants) in BRCA1 and BRCA2 gene sequences can have different lengths and clinical significance: from single nucleotide variants (SNV) and short insertions/deletions (<50 bp) to extended deletions and duplications (so-called copy number variations, or CNV). According to their clinical significance, all variants can be divided into pathogenic, likely pathogenic, variants of uncertain significance,...
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