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Triple-negative breast cancers (TNBCs) are characterised by lack of expression of hormone receptors and epidermal growth factor receptor 2 (HER-2). As they frequently express epidermal growth factor receptors (EGFRs), anti-EGFR therapies are currently assessed for this breast cancer subtype as an alternative to treatments that target HER-2 or hormone receptors. Recently,  EGFR -activating mutations have been reported in TNBC specimens in an East Asian population. Because variations in the frequency of  EGFR -activating mutations in East Asians and other patients with lung cancer have been described, we evaluated the  EGFR  mutational profile in tumour samples from European patients with TNBC.    Methods  We selected from a DNA tumour bank 229 DNA samples isolated from frozen, histologically proven and macrodissected invasive TNBC specimens from European patients. PCR and high-resolution melting (HRM) analyses were used to detect mutations in exons 19 and 21 of  EGFR . The results were then confirmed by bidirectional sequencing of all samples.    Results  HRM analysis allowed the detection of three  EGFR  exon 21 mutations, but no exon 19 mutations. There was 100% concordance between the HRM and sequencing results. The three patients with  EGFR  exon 21 abnormal HRM profiles harboured the rare R836R SNP, but no  EGFR -activating mutation was identified.    Conclusions  This study highlights variations in the prevalence of  EGFR  mutations in TNBC. These variations have crucial implications for the design of clinical trials involving anti-EGFR treatments in TNBC and for identifying the potential target population.

breast cancer research

Lack of EGFR-activating mutations in European patients with triple-negative breast cancer could emphasise geographic and ethnic variations in breast cancer mutation profiles