In a paper appearing in the European Journal of Human Genetics, German researchers present findings from a retrospective hereditary breast and ovarian cancer (HBOC) germline testing analysis that focused on 6,941 individuals who met HBOC genetic testing criteria. Using Illumina panel sequence data, the team searched for risky germline variants in 123 cancer-related genes, uncovering pathogenic variants, likely pathogenic variant, or variants of uncertain significance in nearly 21 percent of the individuals tested. In the process, the authors flagged a core set of 14 HBOC risk genes, which they went on to compare to several nationally or internationally used gene panels that had diagnostic yields between 7.8 percent and 10.8 percent for finding pathogenic or likely pathogenic variants. "[W]e have structured the results in such a way that we can compare an internal 14-gene HBOC core panel with the alternative gene panels," they explain, noting that the results led to "other tumor risk syndromes (TRS) based on the underlying 123 gene backbone."
HBOC Germline Test Analysis Highlights Core Gene Panel
May 16, 2023