Prevalence of ESR1 Mutation in Chinese ER-Positive Breast Cancer
Prevalence of ESR1 Mutation in Chinese ER-Positive Breast Cancer
复制标题
中国 ER 阳性乳腺癌中 ESR1 突变的患病率
DOI：
10.2147/ott.s233662
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发表时间：
2020-01
影响因子：
4
通讯作者：
Liao Ning
中科院分区：
文献类型：
--
作者：
Zhu Wenzhen;Ren Chongyang;Wang Yulei;Wen Lingzhu;Zhang Guochun;Liao Ning
Background ESR1 mutation and its possible relation to endocrine therapy resistance in ER-positive breast cancers have been studied with respect to genetic sequencing data from Western patients but rarely from Chinese patients. This study aimed to investigate the prevalence of ESR1 mutation in Chinese primary and metastatic ER-positive breast cancer. Methods Tumor samples from 297 primary breast cancer (PBC) patients and blood samples from 43 metastatic breast cancer (MBC) patients were obtained to perform whole exon sequencing of the ESR1 gene through next-generation sequencing (NGS). Clinicopathological features of MBC patients were listed and grouped to explore potential factors in ESR1 mutations. Results A total of 15 ESR1 variations, including 11 point mutations, 1 in-frame deletion mutation, 1 synonymous mutation, and 2 amplifications were identified in 13 patients. The ESR1 mutation rate was 1% (3/297) in PBC patients and 18.6% (8/43) in MBC patients. All ESR1 point mutations occurred in the estrogen receptor ligand-binding domain. Six (54.5%) of the 11 point mutations were hotspot mutations. Among all MBC patients, the ESR1 mutation rate in those who had a treatment history using aromatase inhibitors (AI) was significantly higher than those who did not (25.8% versus 0%, P=0.015). Moreover, the ESR1 mutation rate in those who received AI treatment over a period of 12 months was significantly higher than in those whose treatment lasted less than 12 months [36.3% versus 0%, P<0.001]. Conclusion ESR1 mutations were more frequently observed in the circulating cell-free DNA of MBC patients than in PBC patients among the Chinese cohort, and higher among those pretreated with AI, suggesting that such mutations may undergo selection during AI treatment.
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影响因子：
3.8
作者：
Yanagawa, Takehiro;Kagara, Naofumi;Noguchi, Shinzaburo
通讯作者：
Noguchi, Shinzaburo
DOI：
10.1158/1078-0432.ccr-13-2332
发表时间：
2014-04-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Jeselsohn R;Yelensky R;Buchwalter G;Frampton G;Meric-Bernstam F;Gonzalez-Angulo AM;Ferrer-Lozano J;Perez-Fidalgo JA;Cristofanilli M;Gómez H;Arteaga CL;Giltnane J;Balko JM;Cronin MT;Jarosz M;Sun J;Hawryluk M;Lipson D;Otto G;Ross JS;Dvir A;Soussan-Gutman L;Wolf I;Rubinek T;Gilmore L;Schnitt S;Come SE;Pusztai L;Stephens P;Brown M;Miller VA
通讯作者：
Miller VA
影响因子：
11.2
作者：
V. Speirs;A. Parkes;M. Kerin;D. Walton;P. J. Carleton;J. Fox;S. Atkin
通讯作者：
V. Speirs;A. Parkes;M. Kerin;D. Walton;P. J. Carleton;J. Fox;S. Atkin
影响因子：
4.6
作者：
M. E. Hammond;Daniel F. Hayes;M. Dowsett;D. C. Allred;K. Hagerty;S. Badve;P. Fitzgibbons;G. Francis
通讯作者：
M. E. Hammond;Daniel F. Hayes;M. Dowsett;D. C. Allred;K. Hagerty;S. Badve;P. Fitzgibbons;G. Francis
影响因子：
8.8
作者：
Li S;Shen D;Shao J;Crowder R;Liu W;Prat A;He X;Liu S;Hoog J;Lu C;Ding L;Griffith OL;Miller C;Larson D;Fulton RS;Harrison M;Mooney T;McMichael JF;Luo J;Tao Y;Goncalves R;Schlosberg C;Hiken JF;Saied L;Sanchez C;Giuntoli T;Bumb C;Cooper C;Kitchens RT;Lin A;Phommaly C;Davies SR;Zhang J;Kavuri MS;McEachern D;Dong YY;Ma C;Pluard T;Naughton M;Bose R;Suresh R;McDowell R;Michel L;Aft R;Gillanders W;DeSchryver K;Wilson RK;Wang S;Mills GB;Gonzalez-Angulo A;Edwards JR;Maher C;Perou CM;Mardis ER;Ellis MJ
通讯作者：
Ellis MJ