Design and validation of a next generation sequencing assay for hereditary breast and ovarian cancer
- Published
- Accepted
- Subject Areas
- Genetics, Genomics, Oncology, Women's Health
- Keywords
- hereditary breast and ovarian cancer, BRCA testing, next generation sequencing assay, analytical validation
- Copyright
- © 2015 Kang et al.
- Licence
- This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ PrePrints) and either DOI or URL of the article must be cited.
- Cite this article
- 2015. Design and validation of a next generation sequencing assay for hereditary breast and ovarian cancer. PeerJ PrePrints 3:e1463v1 https://doi.org/10.7287/peerj.preprints.1463v1
Abstract
Hereditary breast and ovarian cancer syndrome, caused by a germline deleterious variant in the BRCA1 or BRCA2 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 96-sample validation set consisting of samples from cell lines and deidentified patient samples, including the well-characterized NA12878 sample from HapMap/1000 Genomes.
Author Comment
This is a submission to PeerJ for review.