Wakaki Nonoko, Shimoi Tatsunori, Nakamoto Shogo, Kikawa Yuichiro, Ito Aki, Iwamoto Takayuki
Breast Surgery, Japanese Red Cross Akita Hospital, Akita, Japan
Medical Oncology, National Cancer Center Hospital, Chuo-ku, Tokyo, Japan.
BMJ Case Rep. 2025 Apr 22;18(4):e263687. doi: 10.1136/bcr-2024-263687.
This case report examines a premenopausal woman in her 30s with double heterozygosity (DH) for and The patient's DH led her parents to undergo genetic testing as well, and new carriers were found, highlighting the importance of genetic counselling and surveillance for the entire family. Due to the rarity of DH, cancer risk and optimal surveillance strategies are not addressed in current guidelines or other sources. This report summarises existing evidence and highlights the need for further research to better understand cancer risks and to develop effective management strategies for individuals with this unique genetic profile.
本病例报告研究了一名30多岁的绝经前女性,她同时携带[基因名称1]和[基因名称2]的双杂合性(DH)。患者的DH导致其父母也接受了基因检测,并发现了新的携带者,这凸显了对整个家庭进行遗传咨询和监测的重要性。由于DH较为罕见,目前的指南或其他资料中并未涉及癌症风险及最佳监测策略。本报告总结了现有证据,并强调需要进一步研究,以更好地了解癌症风险,并为具有这种独特基因特征的个体制定有效的管理策略。