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Importance of circulating tumor DNA analysis at diagnosis in early triple-negative breast cancer patients

  • 0Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29, Saemunan-ro, Jongno-gu, Seoul, 03181, Republic of Korea.
Cancer +

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January 31, 2025

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January 31, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Detecting circulating tumor DNA (ctDNA) in early breast cancer (EBC) is challenging but feasible. Triple-negative breast cancer (TNBC) patients show higher ctDNA detectability, suggesting its importance in this subtype.

Area Of Science

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background

  • Circulating tumor DNA (ctDNA) offers non-invasive evaluation for cancer diagnosis and monitoring.
  • ctDNA utility is established in advanced cancers, but detection in early breast cancer (EBC) is limited.
  • This study investigates factors influencing ctDNA detectability in EBC patients.

Purpose Of The Study

  • To identify clinical and molecular characteristics associated with higher ctDNA detectability in early breast cancer.
  • To evaluate the diagnostic performance of ctDNA analysis in EBC.
  • To explore the association between ctDNA status and treatment response.

Main Methods

  • 101 EBC patients were enrolled, with biopsy and plasma samples collected.
  • Next-generation sequencing analyzed 47 breast cancer-related genes from formalin-fixed paraffin-embedded (FFPE) tissues and plasma.
  • Logistic regression assessed factors impacting ctDNA status.

Main Results

  • TP53 and PIK3CA were the most frequently detected genes in both FFPE and ctDNA.
  • Diagnostic performance metrics for ctDNA showed variable sensitivity and high specificity.
  • Triple-negative breast cancer (TNBC) demonstrated a strong association with ctDNA detection (OR 209.50).
  • ctDNA clearance post-neoadjuvant chemotherapy correlated with a higher pathological complete response rate.

Conclusions

  • ctDNA analysis complements tissue biopsy genetic testing in breast cancer.
  • ctDNA detection is particularly significant for patients with TNBC.
  • ctDNA monitoring may aid in assessing treatment response in EBC.

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