Cancers, Vol. 11, Pages 1753: Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy

Cancers, Vol. 11, Pages 1753: Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy Cancers doi: 10.3390/cancers11111753 Authors: Serena Di Cosimo Valentina Appierto Marco Silvestri Giancarlo Pruneri Andrea Vingiani Federica Perrone Adele Busico Secondo Folli Gianfranco Scaperrotta Filippo Guglielmo de Braud Giulia Valeria Bianchi Stefano Cavalieri Maria Grazia Daidone Matteo Dugo Triple negative breast cancer (TNBC) patients not attaining pathological Complete Response (pCR) after neo-adjuvant chemotherapy (NAC) have poor prognosis. We characterized 19 patients for somatic mutations in primary tumor biopsy and residual disease (RD) at surgery by 409 cancer-related gene sequencing (IonAmpliSeqTM Comprehensive Cancer Panel). A median of four (range 1–66) genes was mutated in each primary tumor biopsy, and the most common mutated gene was TP53 followed by a long tail of low frequency mutations. There were no recurrent mutations significantly associated with pCR. However, half of patients with RD had primary tumor biopsy with mutations in genes related to the immune system compared with none of those achieving pCR. Overall, the number of mutations showed a downward trend in post- as compared to pre-NAC samples. PIK3CA was the most common altered gene after NAC. The mutational profile of TNBC during treatment as inferred from patterns of mutant allele frequencies in m...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research