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中华乳腺病杂志(电子版) ›› 2026, Vol. 20 ›› Issue (04) : 197 -206. doi: 10.3877/cma.j.issn.1674-0807.2026.04.001

指南与共识

乳腺癌遗传咨询专家共识
中国抗癌协会乳腺癌整合防筛专业委员会   
  1. 1. 510120 广州,中山大学孙逸仙纪念医院乳腺肿瘤中心
    2. 610041 成都,四川大学华西医院乳腺健康医学研究院
  • 收稿日期:2026-04-08 出版日期:2026-08-01
  • 基金资助:
    国家科技重大专项项目(2023ZD0501100 [2023ZD0501103],2023ZD0502300 [2023ZD0502303]); 国家自然科学基金项目(82371739,82072907); 广东特支计划领军人才项目(2025TX09A268); 四川省科技计划项目(2025ZDZX0012); 广州市科技计划项目(2025A04J7152,2025A03J4113)

Expert consensus on genetic counseling for breast cancer

Committee for Integrative Prevention and Screening of Breast Cancer, China Anti-Cancer Association   

  1. 1. Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China
    2. Breast Health Medical Research Institute, West China Hospital, Sichuan University, Chengdu 610041, China
  • Received:2026-04-08 Published:2026-08-01
引用本文:

中国抗癌协会乳腺癌整合防筛专业委员会. 乳腺癌遗传咨询专家共识[J/OL]. 中华乳腺病杂志(电子版), 2026, 20(04): 197-206.

Committee for Integrative Prevention and Screening of Breast Cancer, China Anti-Cancer Association. Expert consensus on genetic counseling for breast cancer[J/OL]. Chinese Journal of Breast Disease(Electronic Edition), 2026, 20(04): 197-206.

乳腺癌是严重威胁女性健康的恶性肿瘤,有5%~10%的乳腺癌患者存在遗传易感性。目前,国内乳腺癌遗传咨询在标准化流程、基因检测、多学科协作及个体化干预等方面仍存在短板。本共识由中国抗癌协会乳腺癌整合防筛专业委员会牵头制定,依托国内外循证证据与中国人群流行病学数据,采用推荐分级的评估、制定与评价(GRADE分级)系统评价证据与强度。本共识围绕遗传性乳腺癌患者全周期管理,从风险评估、基因检测、精准治疗、预防性干预、长期随访、生育指导、伦理规范等维度确立遗传咨询标准化流程,搭建“检测-解读-干预-随访”闭环管理体系,以期为临床医师、遗传咨询师、高危人群及公共卫生管理人员提供临床指导。

Breast cancer is a prevalent malignant tumor in females, and 5%-10% cases are related to hereditary susceptibility. At present, domestic genetic counseling for breast cancer still has shortcomings in standardized procedures, genetic testing, multidisciplinary collaboration and individualized intervention. Based on updated global and domestic evidences and Chinese population epidemiological features, this consensus, formulated by the Committee for Integrative Prevention and Screening of Breast Cancer, China Anti-Cancer Association, adopts the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system for evidence grading. Centered on full-cycle management of hereditary breast cancer, it specifies standardized workflow of genetic counseling from the perspectives of risk assessment, genetic testing, precise treatment, preventive intervention, long-term follow-up, fertility guidance, and ethical norms and constructs a closed-loop management system of “testing-interpretation-intervention-follow up”, in order to guide clinical practice for medical staff, patients, high-risk relatives and public health administrators.

表1 GRADE证据等级划分标准
图1 遗传性乳腺癌先证者家系图 注:箭头示先证者(家族中首个被识别并进行评估的高危个体);Ⅰ~Ⅲ为家族世代;圆圈为女性;方框为男性;实心图形表示癌症患者;斜线(/)为已故亲属;为携带者(未发病)
表2 携带明确致病基因突变人群的临床监控策略
基因 起始年龄 筛查年龄 推荐监控方式 随访频率 关键管理要点
高外显率基因a
BRCA1/2 25~29岁 25~75岁 乳腺MRI(首选)±超声 MRI每年1次;超声每6~12个月1次 30岁后联合X线;可交替MRI(半年)和X线(半年)
30岁 25~75岁 乳腺MRI+X线±超声 各每年1次
BRCA2(男性) 50岁起或较家族男性最早发病年龄提前10岁,取较早者 50~75岁 超声(首选)或X线;乳腺自查 每年1次 男性发病风险约7%,建议同等重视
TP53 20~29岁 20~75岁 乳腺MRI(禁忌常规X线) MRI每年1次;超声每6~12个月1次 放射治疗绝对禁忌证;需每年全身MRI筛查LFS相关肿瘤(肉瘤、脑瘤、肾上腺皮质癌等)
PALB2 25~29岁 25~75岁 乳腺MRI±超声 MRI每年1次;超声每6~12个月1次 2025年NHS指南明确将其纳入极高风险(VHR)筛查范畴;风险接近BRCA2;ESMO 2025指南列为高影响基因
30岁 25~75岁 乳腺MRI+X线±超声 各每年1次
PTEN/STK11/CDH1 30岁 30~75岁 乳腺MRI+X线±超声 各每年1次 需关注综合征特异性肿瘤(甲状腺、子宫内膜、胃癌)
中等外显率基因b
ATM 30~40岁(如一级亲属有早发乳腺癌/胰腺癌,可考虑从30岁起;无高危肿瘤家族史者可从40岁起) 30~75岁 X线+超声;致密乳腺者加MRI X线每年1次;超声每6~12个月1次 (1)终生乳腺癌风险为20%~30%;(2)NCCN指南确认ATM与结直肠癌风险相关,50岁起可考虑结直肠癌筛查;(3)ESMO 2025指南不推荐ATM纳入普适性核心检测Panel
CHEK2 30~40岁(双等位基因突变者风险增高,建议更早启动) 30~75岁 X线+超声;致密乳腺者加MRI(个体化) X线每年1次;超声每6~12个月1次 (1)终生乳腺癌风险为25%~30%;(2)双等位基因P/LP变异者风险更高,建议30岁起更积极干预;(3)ESMO 2025指南不推荐CHEK2纳入普适性核心检测Panel;(4)NCCN推荐可考虑从30~35岁开始MRI筛查(选项,非强制)
BARD1 40岁起或较家族最早发病年龄提前5~10岁,取较早者 40~75岁 X线+超声 每年1次 低-中度外显,乳腺癌发病风险升高2~3倍
RAD51C/RAD51D/BRIP1 40岁起或较家族最早发病年龄提前5~10岁,取较早者 40~75岁 X线+超声 每年1次 ESMO 2025指南纳入核心Panel,但主要与卵巢癌风险相关,乳腺癌筛查证据相对有限;2025年NHS指南明确强调卵巢癌预防价值
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