J.Jpn. Surg. Soc.
ISSN 1880-1129

[Abstract] [Full Text HTML] [Full Text PDF] （in Japanese / 1127KB） [Members Only]

J.Jpn. Surg. Soc.. 127(3): 274-280, 2026

Feature topic

CLINICAL GENETICS AND COUNSELING

1) Department of Breast Surgical Oncology, Kyushu University Hospital, Fukuoka, Japan
2) Department of Clinical Genetics, Kyushu University Hospital, Fukuoka, Japan
3) Department of Clinical and Oncological Surgery, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan

Yurina Ochiai1)3), Sawako Matsuzaki2), Saori Hayashi1)2), Yoshiki Otsubo1), Takafumi Morisaki1), Yo Sato3), Kimihisa Mizoguchi3), Akiko Ishikawa2), Yuichi Hisamatsu1), Makoto Kubo1)2)3)

Advances in cancer genomic medicine have increased the importance of genetic information in breast surgical practice. Germline BRCA1/2 pathogenic/likely pathogenic (P/LP) variants are now used not only to guide treatment selection but also to inform surveillance strategies, risk-reducing surgery, and family-based risk management.
In this article, we describe the clinical significance of BRCA P/LP variants and summarize a multidisciplinary surveillance and counseling system at our institution. We analyzed 36 carriers of BRCA P/LP variants. Thirteen patients underwent risk-reducing mastectomy (RRM); all had a history of breast cancer and were diagnosed at the time of decision-making. No patient selected RRM before breast cancer onset. Among them, three patients underwent risk-reducing salpingo-oophorectomy (RRSO), while most continued surveillance and considered the timing of preventive intervention. Breast surgeons and genetic counselors collaborated to provide guideline-based surveillance using annual contrast-enhanced breast MRI, mammography, and gynecological assessment. The genetic team supported patients by addressing cancer risk, psychological concerns, and individual values. The oncology team discussed surveillance and preventive options repeatedly during follow-up rather than promoting uniform recommendations.
Genetic medicine is evolving toward continuous decision-making support beyond diagnosis, requiring breast surgical oncologists to play a central role in multidisciplinary care integrating treatment, prevention, and long-term support for patients and their families.

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