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<p>Hereditary breast and ovarian cancer (HBOC) syndrome is caused by germline mutations in the <i>BRCA1</i> and <i>BRCA2</i> genes, which play critical roles in DNA double-strand break repair. Pathogenic variants (PVs) in these genes lead to homologous recombination deficiency (HRD), genomic instability, and increased cancer risk. <i>BRCA1</i>-associated breast cancers are predominantly triple-negative breast cancer (TNBC) with aggressive behavior, and <i>BRCA2</i>-mutated cases are mostly hormone receptor-positive and share similarities with sporadic luminal tumors. Genetic testing for <i>BRCA</i> PVs is crucial for identifying at-risk individuals and enabling risk-reducing interventions and personalized treatment strategies. In this review, we discuss the carcinogenic form and characteristics of <i>BRCA</i> PV-carrier breast cancer, focusing on <i>BRCA</i>-associated hereditary breast cancer and addressing its clinical characteristics and molecular mechanisms. Personalized treatment approaches that integrate patients’ <i>BRCA</i> status with their tumor biology are essential for optimizing patient outcomes.</p>

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Carcinogenic form and characteristics of BRCA pathogenic variant breast cancer

  • 期刊论文

  • 发表日期：

    2025年8月17日

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  • Takaaki Fujii

摘要

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by germline mutations in the BRCA1 and BRCA2 genes, which play critical roles in DNA double-strand break repair. Pathogenic variants (PVs) in these genes lead to homologous recombination deficiency (HRD), genomic instability, and increased cancer risk. BRCA1-associated breast cancers are predominantly triple-negative breast cancer (TNBC) with aggressive behavior, and BRCA2-mutated cases are mostly hormone receptor-positive and share similarities with sporadic luminal tumors. Genetic testing for BRCA PVs is crucial for identifying at-risk individuals and enabling risk-reducing interventions and personalized treatment strategies. In this review, we discuss the carcinogenic form and characteristics of BRCA PV-carrier breast cancer, focusing on BRCA-associated hereditary breast cancer and addressing its clinical characteristics and molecular mechanisms. Personalized treatment approaches that integrate patients’ BRCA status with their tumor biology are essential for optimizing patient outcomes.