由于癌症基因组分析检测和伴生诊断获得了国家医疗保险的覆盖，针对BRCA相关癌症的总体遗传风险评估和细胞系BRCA1/2（BRCA）基因检测在日本的机会越来越多。这种检测不仅对判断铂类药物和PARP抑制剂的适用性有用，而且还可以揭示常染色体显性继承癌症综合征：遗传性乳腺和卵巢癌。对于携带细胞系BRCA基因变异的个体，不同年龄段的乳腺、卵巢、胰腺和前列腺癌风险明显增加，但胃、子宫、胆道和皮肤也可能处于风险状态。对于携带致病BRCA变异的女性，应在20岁开始进行乳腺意识和影像分析，并在30岁开始推荐风险减少手术如乳房切除术，并在晚30岁开始进行输卵管卵巢切除术。对于男性BRCA致病变异携带者，应在40岁开始使用前列腺特异性抗原血清进行前列腺监测。对于两性，理想情况下，应在50岁开始使用内窥镜超声和磁共振胆管胰管造影和血液测试进行胰腺监测。同源重组通路相关基因也是可能的致病基因。当结果不确定具有临床意义时，每6-12个月需要评估变异致病性。需要在适当的时机为致病变异携带者的血缘亲属提供遗传咨询。我们回顾了日本推荐的横向器官BRCA风险管理措施。 ©2023作者，独家许可给日本人类遗传学会。

Opportunities for genetic counseling and germline BRCA1/2 (BRCA) testing are increasing in Japan owing to cancer genomic profiling testing and companion diagnostics being covered by national health insurance for patients with BRCA-related cancers. These tests are useful not only to judge whether platinum agents and PARP inhibitors are indicated but also to reveal an autosomal-dominant inherited cancer syndrome: hereditary breast and ovarian cancer. In individuals with germline BRCA variants, risk of cancers of the breast, ovary, pancreas, and prostate is significantly increased at various ages of onset, but the stomach, uterus, biliary tract, and skin might also be at risk. For women with pathogenic BRCA variants, breast awareness and image analyses should be initiated in their 20s, and risk-reducing procedures such as mastectomy are recommended starting in their 30s, with salpingo-oophorectomy in their late 30s. For male BRCA pathogenic variant carriers, prostatic surveillance should be applied using serum prostate-specific antigen starting in their 40s. For both sexes, image examinations ideally using endoscopic ultrasound and magnetic resonance cholangiopancreatography and blood testing should begin in their 50s for pancreatic surveillance. Homologous recombination pathway-associated genes are also causative candidates. Variant pathogenicity needs to be evaluated every 6-12 months when results are uncertain for clinical significance. Genetic counseling needs to be offered to the blood relatives of the pathogenic variant carriers with suitable timing. We review the recommended cross-organ BRCA risk management in Japan.© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.