Circulating Tumour Mutation Detection in Triple-negative Breast Cancer As an Adjunct to Tissue Response Assessment

Overview

Journal NPJ Breast Cancer

Date 2024 Jan 5

PMID 38182588

Authors

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

Affiliations

Soon will be listed here.

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.

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