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<p>The analysis included 3,800 cases of breast cancer. Next-generation sequencing (NGS) of DNA extracted from peripheral blood leukocytes revealed mutations in the g<i>PALB2</i> gene in 39 (1.03%) patients. The most frequent mutations were <i>c.509_510del</i> (25.64%), <i>c.1592del</i> (20.51%), and <i>c.172_175del</i> (10.26%). The predominant histological variant was invasive ductal carcinoma (84.62%) with moderate differentiation (G2) (48.72%). In most cases, luminal HER2<sup>–</sup> subtype (69.23%) was revealed, HER2<sup>+</sup> and triple-negative were less frequent (12.82 and 17.95%, respectively). Neoadjuvant chemotherapy was administered to 9 patients; a clinical response observed in 100% of cases. RCB-0 (pCR) was noted in 33.3%; RCB-I in 11.1%, RCB-II in 44.4%, and RCB-III in 11.1% of observations. All recorded cases of contralateral breast cancer (10.26%) were metachronous and presented as estrogen receptor-positive HER2<sup>–</sup> tumors.</p>

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Clinical and Morphological Features of gPALB2-Associated Breast Cancer in the Russian Population

  • 期刊论文

  • 发表日期：

    2025年7月1日

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  • V. A. Fedko,
  • E. V. Artamonova,
  • A. M. Stroganova,
  • V. A. Mileyko,
  • T. S. Lisitsa,
  • A. K. Novikov,
  • E. I. Kovalenko

摘要

The analysis included 3,800 cases of breast cancer. Next-generation sequencing (NGS) of DNA extracted from peripheral blood leukocytes revealed mutations in the gPALB2 gene in 39 (1.03%) patients. The most frequent mutations were c.509_510del (25.64%), c.1592del (20.51%), and c.172_175del (10.26%). The predominant histological variant was invasive ductal carcinoma (84.62%) with moderate differentiation (G2) (48.72%). In most cases, luminal HER2– subtype (69.23%) was revealed, HER2+ and triple-negative were less frequent (12.82 and 17.95%, respectively). Neoadjuvant chemotherapy was administered to 9 patients; a clinical response observed in 100% of cases. RCB-0 (pCR) was noted in 33.3%; RCB-I in 11.1%, RCB-II in 44.4%, and RCB-III in 11.1% of observations. All recorded cases of contralateral breast cancer (10.26%) were metachronous and presented as estrogen receptor-positive HER2– tumors.