Screening of an Indian cohort with breast and/or ovarian cancer by a next-generation sequencing-based panel to detect a high frequency of mutations.

e12505 Background: Breast and/or ovarian cancer are among the most prevalent forms of hereditary cancers in India causing an increasing societal burden. Early detection and identification of those with a high risk of developing cancer will help in instituting measures for effective surveillance and risk management strategies. NGS (next-generation sequencing) based tests provide an attractive alternative to the traditionally employed sequential testing strategies. With the right combination of test design (multiple genes) and analysis tools, a single NGS test can identify genetic abnormalities arising from single nucleotide variations (SNVs) and/or structural variations (SVs). Methods: 126 unrelated patients and families with breast and/or ovarian cancer were tested using the TruSight Cancer panel (consisting of 94 genes), which includes 13 genes highly associated with risk of inherited breast and/or ovarian cancer. Paired end sequencing was done with an average coverage of > 450X. The data was analyzed us...