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The poster of the study conducted by Genekor’s Scientific Team “Different Copy Number Variations (CNVs) account for 10.4% of pathogenic variants in 1418 patients referred for hereditary breast cancer testing” was presented at the San Antonio Breast Cancer Symposium 2021.
The International Scientific Symposium for Interaction and Exchange among Scientists and Clinicians in Breast Cancer.
A very important study, in which a total of 1,418 people were screened for breast cancer predisposition by analyzing a panel of genes with Next-Generation Sequencing (NGS).
The results showed that the analysis of large genomic rearrangements should not be limited to the BRCA1 / 2 genes. CNV detection algorithms provide a cost-effective and feasible methodology for their determination from NGS data. Genetic analysis in hereditary breast cancer is recommended to include complete sequencing and analysis of CNVs of genes contributing to patients’ medical management decisions.
See the Poster here.
