乳腺癌是中国女性常见的恶性肿瘤之一,其中遗传性乳腺癌占5%~10%,BRCA1/2基因突变是最主要的遗传易感因素。近年来,尽管多腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂等靶向药物的应用改善了BRCA突变乳腺癌患者的预后...乳腺癌是中国女性常见的恶性肿瘤之一,其中遗传性乳腺癌占5%~10%,BRCA1/2基因突变是最主要的遗传易感因素。近年来,尽管多腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂等靶向药物的应用改善了BRCA突变乳腺癌患者的预后,但在临床实践中仍存在诸多亟待解决的问题,包括突变检测的规范化、精准治疗策略的优化及长期管理的完善等。针对这些临床问题,本共识专家组基于《中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2018年版)》及国内外最新循证医学证据,结合中国临床实践特点,对BRCA1/2基因检测的适用人群、检测方法、结果解读、治疗策略和风险管理等关键环节进行了系统评估和深入讨论,最终形成《中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2025年版)》。主要更新内容包括:①增加BRCA1/2基因突变与程序性死亡蛋白配体-1(programmed death ligand-1,PD-L1)表达的关系,以及BRCAness类型的相关内容;②规范基因检测的应用,如增加临床检测的意义、时机及样本选择、优化BRCA检测人群;③更新治疗策略,如BRCA1/2基因突变的非药物治疗、BRCA1/2基因突变三阴性乳腺癌(triple-negative breast cancer,TNBC)患者的治疗、BRCA1/2基因突变激素受体(hormone receptor,HR)+/人表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)-乳腺癌患者的治疗决策、PARP抑制剂的临床使用及不良反应管理;④增加长期风险管理的相关内容,如涵盖随访管理、预防性手术指征、新增基因检测的质量控制与要求、更新基因检测流程、报告内容及解读等。本共识旨在为临床医师提供规范化的诊疗指导,推动BRCA基因突变乳腺癌的精准医疗发展,最终改善患者生存及预后。随着研究的深入,本共识今后将持续更新以纳入最新的循证医学证据。本共识已在国际实践指南注册平台(Practice guideline REgistration for transPAREncy,PREPARE)注册,注册号为PREPARE-2025CN1085。展开更多
乳腺癌易感基因(breast cancer susceptibility gene,BRCA)1和BRCA2是遗传性卵巢癌、乳腺癌的易感基因,其胚系突变可导致罹患相关肿瘤的风险显著提高^([1])。由于BRCA1和BRCA2基因编码序列长,传统聚合酶链反应(polymerase chainreaction...乳腺癌易感基因(breast cancer susceptibility gene,BRCA)1和BRCA2是遗传性卵巢癌、乳腺癌的易感基因,其胚系突变可导致罹患相关肿瘤的风险显著提高^([1])。由于BRCA1和BRCA2基因编码序列长,传统聚合酶链反应(polymerase chainreaction,PCR)无法完成全部编码序列的检测。高通量测序技术因其检测范围大、通量高等特点,是目前BRCA1和BRCA2基因检测最常用的技术。高通量测序的文库构建方式有多种,其中基于多重PCR的靶向测序技术操作简便、实验周期短,临床应用较广泛。本研究拟对1例多重PCR靶向测序技术检测BRCA1基因假阴性的原因进行分析,旨在提高临床基因检测实验室人员对于不同方法学局限性的警惕,避免漏检的发生,为临床和患者提供更准确、全面的检测信息。展开更多
本文报道一例乳腺化生性癌伴BRCA1基因突变患者的临床资料。患者为26岁女性,因“发现左乳腺结节1月”入院,彩超示左乳分叶状低回声结节,形态不规则,内未探及血流信号。行乳腺区段切除术,术后病理提示形态学结合免疫组化符合伴间叶分化...本文报道一例乳腺化生性癌伴BRCA1基因突变患者的临床资料。患者为26岁女性,因“发现左乳腺结节1月”入院,彩超示左乳分叶状低回声结节,形态不规则,内未探及血流信号。行乳腺区段切除术,术后病理提示形态学结合免疫组化符合伴间叶分化的化生性癌,癌细胞ER(−)、PR(−)、Her-2(0),BRCA1基因突变检测结果:c.192T > G (p.C64W),突变类型为4类–疑似有害变异,术后予AC-T方案化疗6个周期,序贯奥拉帕尼使用1年,目前随访25个月,无局部复发和远处转移。This paper reports the clinical data of a case of breast metaplastic carcinoma with BRCA1 gene mutation. The patient was a 26-year-old woman who was admitted to the hospital with a left breast nodule that had been detected for one month. Ultrasound showed a lobulated hypoechoic nodule in the left breast with an irregular morphology, and no blood flow signals were detected in it. We performed segmental mastectomy for the patient, and postoperative pathology suggested that the morphology combined with immunohistochemistry was consistent with a metaplastic carcinoma with mesenchymal differentiation, and the cancer cells were ER(−), PR(−), and Her-2(0), and the results of the mutation test of the BRCA1 gene were: c.192T > G (p.C64W), and the mutation type was class 4-suspected deleterious variant. After surgery, she was given 6 cycles of chemotherapy with AC-T regimen, sequential Olaparib had been used for one year, and she was followed up for 25 months with no obvious signs of local recurrence or distant metastasis.展开更多
文摘乳腺癌是中国女性常见的恶性肿瘤之一,其中遗传性乳腺癌占5%~10%,BRCA1/2基因突变是最主要的遗传易感因素。近年来,尽管多腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂等靶向药物的应用改善了BRCA突变乳腺癌患者的预后,但在临床实践中仍存在诸多亟待解决的问题,包括突变检测的规范化、精准治疗策略的优化及长期管理的完善等。针对这些临床问题,本共识专家组基于《中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2018年版)》及国内外最新循证医学证据,结合中国临床实践特点,对BRCA1/2基因检测的适用人群、检测方法、结果解读、治疗策略和风险管理等关键环节进行了系统评估和深入讨论,最终形成《中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2025年版)》。主要更新内容包括:①增加BRCA1/2基因突变与程序性死亡蛋白配体-1(programmed death ligand-1,PD-L1)表达的关系,以及BRCAness类型的相关内容;②规范基因检测的应用,如增加临床检测的意义、时机及样本选择、优化BRCA检测人群;③更新治疗策略,如BRCA1/2基因突变的非药物治疗、BRCA1/2基因突变三阴性乳腺癌(triple-negative breast cancer,TNBC)患者的治疗、BRCA1/2基因突变激素受体(hormone receptor,HR)+/人表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)-乳腺癌患者的治疗决策、PARP抑制剂的临床使用及不良反应管理;④增加长期风险管理的相关内容,如涵盖随访管理、预防性手术指征、新增基因检测的质量控制与要求、更新基因检测流程、报告内容及解读等。本共识旨在为临床医师提供规范化的诊疗指导,推动BRCA基因突变乳腺癌的精准医疗发展,最终改善患者生存及预后。随着研究的深入,本共识今后将持续更新以纳入最新的循证医学证据。本共识已在国际实践指南注册平台(Practice guideline REgistration for transPAREncy,PREPARE)注册,注册号为PREPARE-2025CN1085。
文摘乳腺癌易感基因(breast cancer susceptibility gene,BRCA)1和BRCA2是遗传性卵巢癌、乳腺癌的易感基因,其胚系突变可导致罹患相关肿瘤的风险显著提高^([1])。由于BRCA1和BRCA2基因编码序列长,传统聚合酶链反应(polymerase chainreaction,PCR)无法完成全部编码序列的检测。高通量测序技术因其检测范围大、通量高等特点,是目前BRCA1和BRCA2基因检测最常用的技术。高通量测序的文库构建方式有多种,其中基于多重PCR的靶向测序技术操作简便、实验周期短,临床应用较广泛。本研究拟对1例多重PCR靶向测序技术检测BRCA1基因假阴性的原因进行分析,旨在提高临床基因检测实验室人员对于不同方法学局限性的警惕,避免漏检的发生,为临床和患者提供更准确、全面的检测信息。
文摘本文报道一例乳腺化生性癌伴BRCA1基因突变患者的临床资料。患者为26岁女性,因“发现左乳腺结节1月”入院,彩超示左乳分叶状低回声结节,形态不规则,内未探及血流信号。行乳腺区段切除术,术后病理提示形态学结合免疫组化符合伴间叶分化的化生性癌,癌细胞ER(−)、PR(−)、Her-2(0),BRCA1基因突变检测结果:c.192T > G (p.C64W),突变类型为4类–疑似有害变异,术后予AC-T方案化疗6个周期,序贯奥拉帕尼使用1年,目前随访25个月,无局部复发和远处转移。This paper reports the clinical data of a case of breast metaplastic carcinoma with BRCA1 gene mutation. The patient was a 26-year-old woman who was admitted to the hospital with a left breast nodule that had been detected for one month. Ultrasound showed a lobulated hypoechoic nodule in the left breast with an irregular morphology, and no blood flow signals were detected in it. We performed segmental mastectomy for the patient, and postoperative pathology suggested that the morphology combined with immunohistochemistry was consistent with a metaplastic carcinoma with mesenchymal differentiation, and the cancer cells were ER(−), PR(−), and Her-2(0), and the results of the mutation test of the BRCA1 gene were: c.192T > G (p.C64W), and the mutation type was class 4-suspected deleterious variant. After surgery, she was given 6 cycles of chemotherapy with AC-T regimen, sequential Olaparib had been used for one year, and she was followed up for 25 months with no obvious signs of local recurrence or distant metastasis.
