K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.

摘要: Whole genome analysis and the search for mutations in germline tumor DNAs is becoming a major tool evaluation of risk as well management hereditary cancer syndromes. Because identification predisposition gene panels, thousands such variants have been catalogued yet many remain unclassified, presenting clinical challenge Although algorithms exist to estimate likelihood variant being deleterious, these tools are rarely used decision-making. Here, we review progress classifying K3326X, rare truncating on C-terminus BRCA2 recent literature other novel single nucleotide polymorphisms, SNPs, protein, defined this portion after final BRC repeat (amino acids 2058-3418).