{"title":"Carcinogenic form and characteristics of BRCA pathogenic variant breast cancer.","authors":"Takaaki Fujii","doi":"10.1007/s10147-025-02853-8","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":13869,"journal":{"name":"International Journal of Clinical Oncology","volume":" ","pages":"1885-1889"},"PeriodicalIF":2.8000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Clinical Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10147-025-02853-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/17 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.
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