Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population  

作　　者：Sanjian Yu Xia Qiu Zezhou Wang Jialong Xiao Hui Jie Hailin Shan Qing Shao Heng Xia Feng Cao Jun Li Cuixia Fu Liqin Chen Xiaofang Lu Tingting Su Qianqian Shengqun Hou Honglian Wang Ying Zheng Zhimin Shao Yun Liu Zhen Hu 

机构地区：[1]Department of Breast Surgery,Fudan University Shanghai Cancer Center,Shanghai 200032,China [2]Department of Oncology,Shanghai Medical College,Fudan University,Shanghai 200032,China [3]Department of Breast Surgery,Zhoushan Hospital,Zhoushan,Zhejiang 31600,China [4]Department of Cancer Prevention,Fudan University Shanghai Cancer Center,Shanghai 200032,China [5]Department of General Surgery,Shanghai Tenth People's Hospital,Chongming Branch,Shanghai 202157,China [6]Department of Thyroid and Breast Surgery,Jiangyin People's Hospital,Southeast University,Jiangyi,Jiangsu 214499,China [7]Department of Thyroid and Breast Surgery,Shaoxing Central Hospital,Shaoxing,Zhejiang 312030,China [8]Department of General Surgery,Shanghai Seventh People's Hospital,SHanghai University of Traditional Chinese Medicine,Shanghai 200137,China [9]Department of General Surgery,Shanghai Pudong New Area Gongli Hospital,Shanghai 200135,China [10]Department of Nursing,Fudan University Shanghai Cancer Center,Shanghai 20032,China [11]AITA Biomedical Research Institute,Shanghai 201101,China [12]Department of Biliary and Pancreatic Surgery,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China

出　　处：《Cancer Pathogenesis and Therapy》2025年第2期147-153,共7页癌症发生与治疗(英文)

基　　金：supported by the Shanghai Committee of Science and Technology Funds(No.14441901402);the National Natural Science Foundation of China(No.181972468);the AITA Biomedical Research Institute Breast Cancer Genetic Susceptibility Gene Research Fund.

摘　　要：Background:Population-based penetrance studies of breast cancer gene 1/2(BRCA1/2)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.Methods:Between July 2019 and March 2021,we tested 2216 breast cancer probands from Chinese communities for BRCA1/2 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.Results:Of the 2216 breast cancer probands,109(4.90%)carried BRCA1/2 P/LP variants,49 in the BRCA1 gene and 60 in the BRCA2 gene.The penetrance of female breast cancer by 85 years of age was 22.50%and 18.20%in BRCA1 and BRCA2 P/LP variant carriers,respectively.The penetrance of ovarian cancer by 85 years of age was 26.00%in BRCA1 P/LP variant carriers.The penetrance of other malignancies did not reach statistical significance owing to the small number of events.Conclusions:Our findings showed that breast cancer penetrance among BRCA1 and BRCA2 P/LP variant carriers was 22.50%and 18.20%,respectively,which suggests that prophylactic mastectomy may not be necessary for such Chinese individuals.

关 键 词：BRCA1/2 gene mutations Breast cancer Chinese population Population-based studies 

分 类 号：R737.9[医药卫生—肿瘤]