Yukisawa Seigo, Kakinuma Toshiyuki, Yotsumoto Junko, Kawakami Kentaro, Furukawa Junji, Shinozaki Hiroharu
Dept. of Medical Oncology, Saiseikai Utsunomiya Hospital.
Gan To Kagaku Ryoho. 2023 Oct;50(10):1089-1091.
We report the first Japanese case of hereditary breast and ovarian cancer(HBOC)carrying 2 germline pathogenic variants (GPVs)in the BRCA2 gene. Genetic testing of the BRCA1 and BRCA2 genes was performed in a young woman with HBOC and 2 GPVs were identified in the BRCA2 gene. Since simultaneous GPVs in both parental alleles(ie, trans)in the BRCA2 gene is diagnostic of Fanconi anemia, which is characterized by bone marrow dysfunction and susceptibility to malignancy, we genetically tested her relatives. The same variants were revealed, and both variants were located in the cis position. For patients with multiple GPVs in the BRCA2 gene, we should consider genetic testing of the relatives to confirm whether the variants are located in the cis or trans position under appropriate genetic counseling.
我们报告了日本首例携带BRCA2基因2种生殖系致病变异（GPV）的遗传性乳腺癌和卵巢癌（HBOC）病例。对一名患有HBOC的年轻女性进行了BRCA1和BRCA2基因的基因检测，在BRCA2基因中鉴定出2种GPV。由于BRCA2基因双亲等位基因同时出现GPV（即反式）可诊断为范可尼贫血，其特征为骨髓功能障碍和易患恶性肿瘤，因此我们对她的亲属进行了基因检测。发现了相同的变异，且两种变异均位于顺式位置。对于BRCA2基因存在多种GPV的患者，我们应在适当的遗传咨询下考虑对其亲属进行基因检测，以确认变异是位于顺式还是反式位置。
J Clin Oncol. 2022-5-10
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