Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women  

作　　者：Fenfen Fu Dongjie Zhang Li Hu Senthil Sundaram Dingge Ying Ying Zhang Shuna Fu Juan Zhang Lu Yao Ye Xu Yuntao Xie 

机构地区：[1]Department of Breast Surgery,Peking University International Hospital,Beijing 102206,China [2]Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Familial&Hereditary Cancer Center,Peking University Cancer Hospital&Institute,Beijing 100142,China [3]Prenetics Limited,Hong Kong 999077,China [4]Beijing CircleDNA Gene Technology Co.,Ltd.,Beijing 100020,China

出　　处：《Cancer Biology & Medicine》2022年第2期253-262,共10页癌症生物学与医学（英文版）

基　　金：This study was supported by grants from the National Natural Science Foundation of China(Grant Nos.81772824,81372832,and 81974422).

摘　　要：Objective:There are many hereditary breast cancer patients in China,and multigene panel testing has been a new paradigm of genetic testing for these patients and their relatives.However,the magnitude of breast cancer risks related to multiple breast cancer susceptibility genes are largely unknown in Chinese women.Methods:We screened pathogenic variants in 15 established or potential breast cancer susceptibility genes from 8,067 consecutive Chinese female breast cancer patients and 13,129 Chinese cancer-free female controls.These breast cancer patients were unselected for age at diagnosis or family history.Results:We found that pathogenic variants in TP53[odds ratio(OR):16.9,95%confidence interval(CI):5.2–55.2];BRCA2(OR:10.4,95%CI:7.6–14.2);BRCA1(OR:9.7,95%CI:6.3–14.8);and PALB2(OR:5.2,95%CI:3.0–8.8)were associated with a high risk of breast cancer.ATM,BARD1,CHEK2,and RAD51D were associated with a moderate risk of breast cancer with ORs ranging from 2-fold to 4-fold.In contrast,pathogenic variants of NBN,RAD50,BRIP1,and RAD51C were not associated with increased risk of breast cancer in Chinese women.The pathogenic variants of PTEN,CDH1,and STK11 were very rare,so they had a limited contribution to Chinese breast cancer.Patients with pathogenic variants of TP53,BRCA1,BRCA2,and PALB2 more often had earlyonset breast cancer,bilateral breast cancer,and a family history of breast cancer and/or any cancer.Conclusions:This study provided breast cancer risk assessment data for multiple genes in Chinese women,which is useful for genetic testing and clinical management of Chinese hereditary breast cancer.

关 键 词：Multigene panel sequencing susceptibility genes breast cancer risk PHENOTYPE case-control study 

分 类 号：R737.9[医药卫生—肿瘤]