主页 文献库文献详情
PMID: 24318467 已发表 · ppublish 英语

Mutations in EGFR, BRAF and RAS are rare in triple-negative and basal-like breast cancers from Caucasian women.

Breast cancer research and treatment ·第 143 卷 ·第 2 期 ·2014-08-28

Tilch E, Seidens T, Cocciardi S, Reid L E, Byrne D, Simpson P T, Vargas A C, Cummings M C, Fox S B, Lakhani S R, Chenevix Trench G

摘要

Basal-like and triple-negative breast cancers usually display a high level of genomic instability and often carry TP53 mutations. Mutations in EGFR have been reported in about 10 % triple-negative tumours from Chinese women, and there is some evidence that triple-negative and basal-like tumours might carry additional mutations against which targeted therapies are available. We, therefore, sought to determine the frequency of 238 targetable mutations in 19 oncogenes (including EGFR) in a panel of basal-like and triple-negative breast cancers from Caucasian women. We used the OncoCarta panel to screen for 238 mutations across 19 common oncogenes in 107 basal-like and triple-negative breast cancers from Caucasian women. Mutations were then verified using Sanger sequencing or primer extension by iPLEX. We identified and validated 10 mutations across five genes. Most of the mutations were observed in the PIK3CA gene (18/107, 16.8 %), while mutations in KRAS, NRAS, MET and AKT1 were present in only one tumour each (1/107, 0.9 %). Among the missense substitutions in PIK3CA the point mutation resulting in the amino acid change H1047R was the most frequent (8/18, 44 %). All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R). We did not identify any mutations in the EGFR gene. In conclusion, we found that with the exception of mutations in PIK3CA, these actionable oncogenic mutations on the Oncocarta panel are rare in basal-like and triple-negative breast cancers from Caucasian women. Custom panels, designed to detect mutations identified by exome sequencing of basal-like and triple-negative breast cancers, are, therefore, needed to identify women who might be eligible for targeted treatment.

文献信息
期刊
Breast cancer research and treatment
期刊简称
Breast Cancer Res Treat
发表日期
2014-08-28
收录日期
2014-01-07
更新日期
2015-11-19
语言
英语
国家/地区
Netherlands
NLM ID
8111104
分析服务
分析服务

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话: 0531-88819269

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。


商务邮箱

E-mail: product@genelibs.com