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<p>Hormone receptor-positive (HR+) and HER2-negative (HER2−) breast cancer represents ~70% of breast tumors. Accurate detection of <i>PIK3CA</i> and <i>ESR1</i> mutations is crucial for guiding targeted therapies, particularly in advanced disease. Liquid biopsy testing is increasingly recommended, especially for <i>ESR1</i> mutation, but standardized genotyping methods remain limited. The CANIPE study, a prospective, multicenter Spanish trial, evaluated mutation prevalence in 106 baseline blood samples. <i>PIK3CA</i> mutations were identified in 41.9% by ddPCR droplet digital PCR (ddPCR) and 42.8% by targeted next-generation sequencing (NGS), while <i>ESR1</i> mutations were detected in 7.8 and 9.5%, respectively. A concordance analysis between ddPCR and NGS was performed in 62 paired samples, demonstrating excellent agreement (Kappa &gt;0.85) and strong correlation in variant allele frequency for <i>PIK3CA</i>, confirming the reliability of the methods. Baseline circulating free DNA levels were prognostic for survival. These results, derived from real-world patient samples, support ddPCR and NGS as robust, complementary tools for mutation detection and therapeutic decision-making.</p>

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Concordance analysis of non-invasive techniques for PIK3CA and ESR1 mutations in advanced HR+/HER2- breast cancer: the CANIPE study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月31日

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  • Clotilde Costa,
  • Ramón Manuel Lago-Lestón,
  • Aitor Rodríguez-Casanova,
  • Teresa Curiel,
  • Carmela Rodríguez,
  • Alicia Abalo,
  • Carmen Abuín,
  • Patricia Palacios,
  • Juan Cueva,
  • Marta Carmona,
  • Alexandra Cortegoso,
  • Serafín Morales,
  • Josep Gumà,
  • Kepa Amillano,
  • Mariana López Flores,
  • Yolanda Fernández,
  • Isaura Fernández Pérez,
  • Ignacio Fernández Sobrado,
  • María Gión Cortés,
  • Carolina Pena,
  • Jesús García-Mata,
  • Andrea Saenz de Miera,
  • Ángel Díaz-Lagares,
  • Laura Muinelo-Romay,
  • Rafael López-López

摘要

Hormone receptor-positive (HR+) and HER2-negative (HER2−) breast cancer represents ~70% of breast tumors. Accurate detection of PIK3CA and ESR1 mutations is crucial for guiding targeted therapies, particularly in advanced disease. Liquid biopsy testing is increasingly recommended, especially for ESR1 mutation, but standardized genotyping methods remain limited. The CANIPE study, a prospective, multicenter Spanish trial, evaluated mutation prevalence in 106 baseline blood samples. PIK3CA mutations were identified in 41.9% by ddPCR droplet digital PCR (ddPCR) and 42.8% by targeted next-generation sequencing (NGS), while ESR1 mutations were detected in 7.8 and 9.5%, respectively. A concordance analysis between ddPCR and NGS was performed in 62 paired samples, demonstrating excellent agreement (Kappa >0.85) and strong correlation in variant allele frequency for PIK3CA, confirming the reliability of the methods. Baseline circulating free DNA levels were prognostic for survival. These results, derived from real-world patient samples, support ddPCR and NGS as robust, complementary tools for mutation detection and therapeutic decision-making.