Yu Sanjian, Qiu Xia, Wang Zezhou, Xiao Jialong, Ji Hui, Shan Hailin, Shao Qing, Xia Heng, Cao Feng, Li Jun, Fu Cuixia, Chen Liqin, Lu Xiaofang, Su Tingting, Yu Qianqian, Hou Shengqun, Wang Honglian, Zheng Ying, Shao Zhimin, Liu Yun, Hu Zhen
Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China.
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Cancer Pathog Ther. 2024 Apr 17;3(2):147-153. doi: 10.1016/j.cpt.2024.04.002. eCollection 2025 Mar.
Population-based penetrance studies of breast cancer gene 1/2 ( pathogenic or likely pathogenic (P/LP) variants in the Eastern Chinese population are currently lacking; thus, we aimed to investigate the penetrance of breast cancer and other malignant tumors among BRCA1/2 P/LP variant carriers using a population-based breast cancer cohort from communities in Eastern China.
Between July 2019 and March 2021, we tested 2216 breast cancer probands from Chinese communities for mutations and collected detailed information on the age, survival status, and malignancy history of first-degree relatives. The kin-cohort method was used to calculate the penetrance of breast cancer and other malignant tumors.
Of the 2216 breast cancer probands, 109 (4.90%) carried P/LP variants, 49 in the gene and 60 in the gene. The penetrance of female breast cancer by 85 years of age was 22.50% and 18.20% in and P/LP variant carriers, respectively. The penetrance of ovarian cancer by 85 years of age was 26.00% in P/LP variant carriers. The penetrance of other malignancies did not reach statistical significance owing to the small number of events.
Our findings showed that breast cancer penetrance among and P/LP variant carriers was 22.50% and 18.20%, respectively, which suggests that prophylactic mastectomy may not be necessary for such Chinese individuals.
ClinicalTrials.gov; https://clinicaltrials.gov/ct2/show/NCT04265937.
目前缺乏基于中国东部人群的乳腺癌1/2基因（BRCA1/2）致病性或可能致病性（P/LP）变异的外显率研究；因此，我们旨在利用来自中国东部社区的基于人群的乳腺癌队列，调查BRCA1/2 P/LP变异携带者中乳腺癌和其他恶性肿瘤的外显率。
2019年7月至2021年3月期间，我们对来自中国社区的2216例乳腺癌先证者进行了BRCA1/2基因检测，并收集了一级亲属的年龄、生存状况和恶性肿瘤病史的详细信息。采用亲属队列法计算乳腺癌和其他恶性肿瘤的外显率。
在2216例乳腺癌先证者中，109例（4.90%）携带P/LP变异，其中BRCA1基因49例，BRCA2基因60例。BRCA1和BRCA2 P/LP变异携带者85岁时女性乳腺癌的外显率分别为22.50%和18.20%。BRCA1 P/LP变异携带者85岁时卵巢癌的外显率为26.00%。由于事件数量较少，其他恶性肿瘤的外显率未达到统计学意义。
我们的研究结果表明，BRCA1和BRCA2 P/LP变异携带者中乳腺癌的外显率分别为22.50%和18.20%，这表明对于此类中国个体，预防性乳房切除术可能没有必要。
ClinicalTrials.gov；https://clinicaltrials.gov/ct2/show/NCT04265937。
