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

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