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High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer

文献类型：期刊论文

作者Zhu, Liang2,3; Pan, Jia-Ni3,4,5; Qian, Ziliang1,6; Ye, Wei-Wu3,4; Wang, Xiao-Jia3,4; Cao, Wen-Ming3,4
刊名BREAST CANCER
出版日期2021-08-17
关键词CIN TP53 BRCA1 LPWGS Breast cancer
ISSN号1340-6868
DOI10.1007/s12282-021-01286-1
通讯作者Cao, Wen-Ming(caowm@zjcc.org.cn)
英文摘要Background Though BRCA1 mutation is the most susceptible factor of breast cancer, its prognostic value is disputable. Here in this study, we use a novel method which based on whole-genome analysis to evaluate the chromosome instability (CIN) value and identified the potential relationship between CIN and prognosis of breast cancer patients with germline-BRCA1 mutation. Materials and methods Sanger sequencing or a 98-gene panel sequencing assay was used to screen for BRCA1 germline small mutations in 1151 breast cancer patients with high-risk factors. MLPA assay was employed to screen BRCA1 large genomic rearrangements in familial breast cancer patients with BRCA1 negative for small mutations. Thirty-two samples with unique BRCA1 germline mutation patterns were further subjected to CIN evaluation by LPWGS (low-pass whole-genome sequencing) technology. Results Firstly, 113 patients with germline BRCA1 mutations were screened from the cohort. Further CIN analysis by the LPWGS assay indicated that CIN was independent from the mutation location or type of BRCA1. Patients with high CIN status had shorter disease-free survival rates (DFS) (HR = 6.54, 95% CI 1.30-32.98, P = 0.034). The TP53 copy loss was also characterized by LPWGS assay. The rates of TP53 copy loss in CIN high and CIN low groups were 85.71% (12/14) and 16.67% (3/18), respectively. Conclusion CIN-high is a prognostic factor correlated with shorter DFS and was independent with the germline BRCA1 mutation pattern. Higher CIN values were significantly correlated with TP53 copy loss in breast cancer patients with germline BRCA1 mutation. Our results revealed a reliable molecular parameter for distinguishing patients with poor prognosis from the BRCA1-mutated breast cancer patients.
WOS关键词GENE ; RISK ; P53 ; CELLS ; LINKS
资助项目Key Research-Development Program of Zhejiang Province[2020C04012] ; Key Research-Development Program of Zhejiang Province[2019C04001] ; Natural Science Foundation of Zhejiang Province, China[LY17H160038] ; National Natural Science Foundation of China[81702851] ; Health Bureau of Zhejiang Province, China[2017RC014]
WOS研究方向Oncology ; Obstetrics & Gynecology
语种英语
WOS记录号WOS:000685593000001
出版者SPRINGER JAPAN KK
资助机构Key Research-Development Program of Zhejiang Province ; Natural Science Foundation of Zhejiang Province, China ; National Natural Science Foundation of China ; Health Bureau of Zhejiang Province, China
源URL[http://ir.hfcas.ac.cn:8080/handle/334002/124380]  
专题中国科学院合肥物质科学研究院
通讯作者Cao, Wen-Ming
作者单位1.Prophet Genom Inc, San Jose, CA 95131 USA
2.Univ Chinese Acad Sci, Dept Pathol, Canc Hosp, Zhejiang Canc Hosp, Hangzhou 310022, Peoples R China
3.Chinese Acad Sci, Inst Canc & Basic Med ICBM, Hangzhou 310022, Peoples R China
4.Univ Chinese Acad Sci, Dept Breast Med Oncol, Canc Hosp, Zhejiang Canc Hosp, Hangzhou 310022, Peoples R China
5.Zhejiang Chinese Med Univ, Hangzhou 310053, Peoples R China
6.Suzhou Hongyuan Biotech Inc, Suzhou 215123, Peoples R China
推荐引用方式
GB/T 7714		 Zhu, Liang,Pan, Jia-Ni,Qian, Ziliang,et al. High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer[J]. BREAST CANCER,2021.
APA Zhu, Liang,Pan, Jia-Ni,Qian, Ziliang,Ye, Wei-Wu,Wang, Xiao-Jia,&Cao, Wen-Ming.(2021).High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.BREAST CANCER.
MLA Zhu, Liang,et al."High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer".BREAST CANCER (2021).

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来源：合肥物质科学研究院

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