Breast cancer is the most frequently diagnosed malignancy among Japanese women, yet gaps in early detection persist, and a substantial proportion of patients present with stage II or higher disease. Germline susceptibility—dominated by BRCA1/2—accounts for a meaningful fraction of cases, with higher prevalence in younger age, bilateral disease, and triple-negative phenotypes, and several variants enriched within the Japanese population. Over the past decade, Japan’s public insurance coverage has progressively incorporated BRCA1/2 testing—first as a companion diagnostic and later for hereditary breast and ovarian cancer (HBOC) diagnosis—while professional societies have established coordinated frameworks for education, guidelines, databases, and workforce training. Building on this foundation, we propose embedding HBOC-appropriate genetic testing within community breast clinics at the time of diagnosis to inform surgical planning and perioperative PARP inhibitor eligibility, shorten turnaround-related delays, and enable secondary screening of previously treated patients. Practical implementation requires compliance notifications, structured referral pathways with core hospitals and genetics units, and accredited staff training; a regional network model in Tokyo demonstrates feasibility. Key challenges include reimbursement lags, administrative burden, immediate counseling needs after a new cancer diagnosis, and difficulty staffing genetics-trained personnel in small practices. Strengthening clinic–tertiary center collaboration and providing institutional support are essential to deliver timely, accurate, and equitable HBOC services nationwide.

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Proliferation and Regional Cooperation in HBOC Clinical Practice

  • Tomoyuki Aruga

摘要

Breast cancer is the most frequently diagnosed malignancy among Japanese women, yet gaps in early detection persist, and a substantial proportion of patients present with stage II or higher disease. Germline susceptibility—dominated by BRCA1/2—accounts for a meaningful fraction of cases, with higher prevalence in younger age, bilateral disease, and triple-negative phenotypes, and several variants enriched within the Japanese population. Over the past decade, Japan’s public insurance coverage has progressively incorporated BRCA1/2 testing—first as a companion diagnostic and later for hereditary breast and ovarian cancer (HBOC) diagnosis—while professional societies have established coordinated frameworks for education, guidelines, databases, and workforce training. Building on this foundation, we propose embedding HBOC-appropriate genetic testing within community breast clinics at the time of diagnosis to inform surgical planning and perioperative PARP inhibitor eligibility, shorten turnaround-related delays, and enable secondary screening of previously treated patients. Practical implementation requires compliance notifications, structured referral pathways with core hospitals and genetics units, and accredited staff training; a regional network model in Tokyo demonstrates feasibility. Key challenges include reimbursement lags, administrative burden, immediate counseling needs after a new cancer diagnosis, and difficulty staffing genetics-trained personnel in small practices. Strengthening clinic–tertiary center collaboration and providing institutional support are essential to deliver timely, accurate, and equitable HBOC services nationwide.