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• W2469268714 abstract "Hereditary breast and ovarian cancer syndrome, caused by a germline pathogenic variant in the BRCA1 or BRCA2 ( BRCA1/2 ) genes, is characterized by an increased risk for breast, ovarian, pancreatic and other cancers. Identification of those who have a BRCA1/2 mutation is important so that they can take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. We describe the design and analytic validation of the Counsyl Inherited Cancer Screen, a next-generation-sequencing-based test to detect pathogenic variation in the BRCA1 and BRCA2 genes. We demonstrate that the test is capable of detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy-number variants (CNVs, also known as large rearrangements) with zero errors over a 114-sample validation set consisting of samples from cell lines and deidentified patient samples, including 36 samples with BRCA1/2 pathogenic germline mutations." @default.
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• W2469268714 date "2016-06-28" @default.
• W2469268714 modified "2023-09-25" @default.
• W2469268714 title "Design and validation of a next generation sequencing assay for hereditary<i>BRCA1</i>and<i>BRCA2</i>mutation testing" @default.
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• W2469268714 doi "https://doi.org/10.7717/peerj.2162" @default.
• W2469268714 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4928470" @default.
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• W2469268714 hasPublicationYear "2016" @default.
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