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<p>We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical–pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV carriers. More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (<i>p</i> &lt; 0.001), although no differences were observed between the two groups in IBCFS or OS.</p>

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Clinical outcome and proportion of hereditary cancer genes gPV in TNBC: the HEaRTBeat study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月13日

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  • Martina Rotolo,
  • Claudia Piombino,
  • Marta Venturelli,
  • Elena Tenedini,
  • Angela Toss,
  • Elena Barbieri,
  • Elisa Gasparini,
  • Isabella Marchi,
  • Federica Domati,
  • Monica Civallero,
  • Luigi Marcheselli,
  • Elisabetta Razzaboni,
  • Enrico Tagliafico,
  • Massimo Dominici,
  • Laura Cortesi

摘要

We aimed to study the proportion of germline pathogenic variants (gPV) in hereditary cancer genes and the clinical–pathological characteristics, local and systemic treatments, pathological complete response (pCR) rate to neoadjuvant therapy, invasive breast cancer-free survival (IBCFS), and overall survival (OS) in triple-negative breast cancer (TNBC) patients, consecutively tested between 2017 and 2024 at Modena and Reggio Emilia University Hospital, Italy. A total of 387 early-stage patients were included in the study. Eighty-seven patients (22%) showed gPV in hereditary predisposing genes, mostly BRCA1/2 (11%), PALB2 (5%), RAD51C/D (2%), MUTYH (2%), ATM (1%), and others (1%). The proliferation index was high in all, whereas the most frequent stage was stage I/II, except in MUTYH gPV carriers. More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (p < 0.001), although no differences were observed between the two groups in IBCFS or OS.