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Identifying Circulating Tumor DNA Mutations Associated with Neoadjuvant Chemotherapy Efficacy in Local Advanced

Benjie Wei1,2, Yanhong Shan3, Zhaoli Du4

  • 1Institute of Life Science, Yinfeng Biological Group, Jinan, Shandong Province, China.

Applied Biochemistry and Biotechnology
|May 17, 2022
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Circulating tumor DNA (ctDNA) mutations can predict neoadjuvant chemotherapy (NACT) success in local advanced breast cancer (LABC). Specific ctDNA markers like XRCC1 mutations indicate a positive response, while mTOR mutations may suggest resistance.

Keywords:
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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Circulating tumor DNA (ctDNA) is a valuable tool for monitoring tumor burden and treatment response in breast cancer.
  • Neoadjuvant chemotherapy (NACT) is a standard treatment for locally advanced breast cancer (LABC).
  • Identifying reliable prognostic markers for NACT efficacy in LABC is crucial for personalized treatment strategies.

Purpose of the Study:

  • To investigate the utility of plasma ctDNA mutations as prognostic biomarkers for treatment outcomes in LABC patients undergoing NACT.
  • To identify specific ctDNA mutations associated with response or resistance to NACT regimens.
  • To develop a predictive model for NACT efficacy based on ctDNA mutational profiles.

Main Methods:

  • Next-generation sequencing (NGS) with a 100-gene panel was used to analyze ctDNA mutations in 56 LABC patients.
  • Patients received standard NACT regimens (AC-T or AC-TH).
  • Treatment efficacy was assessed using the Miller-Payne grading system, and a predictive model screened ctDNA biomarkers.

Main Results:

  • The most frequently mutated genes in ctDNA were MTHFR (91.1%), XPC (89.3%), ABCB1 (94.1%), BRCA2 (67.9%), and XRCC1 (67.9%).
  • XRCC1 44055726 (TG>-) mutation was significantly associated with good NACT response (Miller-Payne 4-5), while mTOR 11249132(G>C) mutation correlated with poor response (Miller-Payne 1-3).
  • A combination of XRCC1 44055726 (TG>-) and wild-type mTOR predicted favorable NACT efficacy (AUC=0.77).

Conclusions:

  • Plasma ctDNA mutations, particularly XRCC1 44055726 (TG>-), show promise as positive predictive biomarkers for NACT efficacy in LABC.
  • mTOR 11249132(G>C) mutation may indicate potential resistance to NACT in LABC patients.
  • ctDNA analysis offers a non-invasive approach to personalize NACT strategies and improve patient outcomes in LABC.