npj Breast Cancer (Jan 2024)

Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment

  • Elena Zaikova,
  • Brian Y. C. Cheng,
  • Viviana Cerda,
  • Esther Kong,
  • Daniel Lai,
  • Amy Lum,
  • Cherie Bates,
  • Wendie den Brok,
  • Takako Kono,
  • Sylvie Bourque,
  • Angela Chan,
  • Xioalan Feng,
  • David Fenton,
  • Anagha Gurjal,
  • Nathalie Levasseur,
  • Caroline Lohrisch,
  • Sarah Roberts,
  • Tamara Shenkier,
  • Christine Simmons,
  • Sara Taylor,
  • Diego Villa,
  • Ruth Miller,
  • Rosalia Aguirre-Hernandez,
  • Samuel Aparicio,
  • Karen Gelmon

DOI
https://doi.org/10.1038/s41523-023-00607-1
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 9

Abstract

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Abstract Circulating tumour DNA (ctDNA) detection via liquid biopsy is an emerging alternative to tissue biopsy, but its potential in treatment response monitoring and prognosis in triple negative breast cancer (TNBC) is not yet well understood. Here we determined the prevalence of actionable mutations detectable in ctDNA using a clinically validated cancer gene panel assay in patients with TNBC, without recurrence at the time of study entry. Sequencing of plasma DNA and validation of variants from 130 TNBC patients collected within 7 months of primary treatment completion revealed that 7.7% had detectable residual disease with a hotspot panel. Among neoadjuvant treated patients, we observed a trend where patients with incomplete pathologic response and positive ctDNA within 7 months of treatment completion were at much higher risk of reduced progression free survival. We propose that a high risk subset of early TNBC patients treated in neoadjuvant therapy protocols may be identifiable by combining tissue response and sensitive ctDNA detection.