Abstract
Abstract Introduction. Circulating tumor DNA analysis has the potential to transform the clinical management of patients with breast cancer. We assessed the accuracy of ultra-high sensitivity ctDNA testing in patients with advanced breast cancer. Methods. From a prospective tissue collection study, we identified 25 patients with a contemporaneous metastatic tissue biopsy and plasma for ctDNA testing. Tumour DNA from the metastatic tissue biopsy was sequenced with a validated clinical hybrid capture panel, while plasma cell free DNA was sequenced with AVENIO ctDNA technology – a molecular barcoded duplex sequencing based on CAPPseq technology. Sample collection is on-going and results from the full concordance series will be presented at the conference. Results. Circulating tumour DNA was detectable in 87% (20/23) of patients, with at least one variant from tissue sequencing identified in plasma. There was overall high agreement between tissue and plasma sequencing. The sensitivity of plasma testing for variants identified in tumour, positive percent agreement, was 75% (24/32). Plasma testing revealed a diversity of sub-clonal mutations including polyclonal ESR1, polyclonal FGFR2 and FGFR3 mutations, rare KRAS mutations, and TSC1 and MSH2 inactivating mutations. Conclusions. Circulating tumour DNA testing with molecular barcoded duplex sequencing offers high sensitivity for tumour variant detection. The extent of sub-clonal resistance mutations identified emphasises the genetic diversity of advanced breast cancer. Citation Format: Garcia-Murillas I, Proszek P, Fribbens C, Yuan L, Bye H, Hubank M, Jiang J, Yuang S, Palma J, Johnston S, Ring A, Turner N. Circulating tumor DNA analysis with ultra-high sensitivity sequencing in metastatic breast cancer [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr P2-02-17.
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