| 論文種別 | 症例報告 |
| 言語種別 | 英語 |
| 査読の有無 | その他(不明) |
| 表題 | Double heterozygosity for BRCA1 and BRCA2 in breast cancer: considerations in surveillance and cancer risk management. |
| 掲載誌名 | 正式名：BMJ case reports 略 称：BMJ Case Rep ISSNコード：1757790X/1757790X |
| 掲載区分 | 国外 |
| 巻・号・頁 | 18(4),pp.e263687 |
| 著者・共著者 | Nonoko Wakaki, Tatsunori Shimoi, Shogo Nakamoto, Yuichiro Kikawa, Aki Ito, Takayuki Iwamoto |
| 発行年月 | 2025/04 |
| 概要 | This case report examines a premenopausal woman in her 30s with double heterozygosity (DH) for BRCA1 and BRCA2 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. |
| DOI | 10.1136/bcr-2024-263687 |
| PMID | 40262912 |