Performance of a highly sensitive and focused breast cancer sequencing panel - 11th International Symposium on Circulating Nucleic Acids in Plasma and Serum (CNAPS)

Frank Holtrup ¹ Johannes Fredebohm ¹ Robert Querfurth ¹ Dan Edelstein ¹ Matthew Ryder ¹ Daniel H. Mehnert ¹ Annett Helfrich-Kröger ¹ Janusz Wesolowski ¹ Denise Heim ¹ Hope S. Rugo ² Ben H. Park ³ Frank Diehl ¹

¹LDT, Sysmex Inostics, Germany
²Comprehensive Cancer Center, University of California San Francisco, USA
³Medical Center, Vanderbilt University, USA

SafeSEQ is a PCR-based library preparation method for highly sensitive mutation detection using NGS. This technology allows rapid development of custom panels.

Here we assessed performance of a SafeSEQ breast cancer assay against gold standard BEAMing technology by analyzing contrived and clinical¹ sample material.

Sensitivity and accuracy were shown to be comparable to BEAMing. Results demonstrate 100% concordance between the two highly sensitive technologies for all tested ESR1, PIK3CA and AKT1 mutations, in a range of 0.01%-80% MAF.

In summary, SafeSEQ technology allows de novo detection of mutations with the sensitivity of BEAMing, thus enabling its use not only in prediction but also in monitoring and MRD applications.

Palbociclib in combination with fulvestrant or tamoxifen as treatment for hormone receptor positive metastatic breast cancer with prior chemotherapy for advanced disease (TBCRC 035): A Phase II study with pharmacodynamic markers, Hope S Rugo, AACR 2019