Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.

ABSTRACT: The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, pro

SUBMITTER: Vysotskaia VS 

PROVIDER: S-EPMC5326550 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature