A Fast and Reliable Amplicon-Based NGS Strategy for Screening of Germ-Line Mutations in BRCA1 and BRCA2 Genes

摘要

Germline mutations in BRCA1 and BRCA2 genes are the most common known cause of hereditary breast and ovarian cancer. Individuals in affected families have greatly increased risk for breast and ovarian cancer as well as significant risk for prostate and pancreatic cancer. Next generation sequencing provides a convenient and simplified alternative to traditional Sanger sequencing to detect deleterious mutations in the combined 15,843 nt-long coding regions of the BRCA genes. Several companies now offer BRCA NGS screening kits; however, there remains significant space for improvements in speed and cost efficiency.