Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing

PeerJ

article

Hyunseok P. Kang¹  Jared R. Maguire¹  Clement S. Chu¹  Imran S. Haque¹  Henry Lai¹  Rebecca Mar-Heyming¹  Kaylene Ready¹  Valentina S. Vysotskaia¹  Eric A. Evans¹ 

[1] Counsyl Inc.

关键词: Hereditary breast and ovarian cancer;    BRCA testing;    Next generation sequencing assay;    Analytical validation;   

DOI  :  10.7717/peerj.2162

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

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 BRCA1/2pathogenic germline mutations.

【 授权许可】

CC BY