BACKGROUND: Circulating tumor DNA (ctDNA) within a liquid biopsy is a promising marker for genotyping metastatic tumors. MATERIALS AND METHODS: We performed next generation whole exon sequencing of TP53 and PIK3CA genes, which are the 2 most common genetic alterations in breast cancer, in plasma DNA (pDNA) of 17 metastatic breast cancer (MBC) patients and in tumor DNA (tDNA) from their primary tumors. RESULTS: We identified 11 mutations (6 in TP53 and 5 in PIK3CA) in tDNA from 8 patients (47%) and 13 mutations (6 in TP53 and 7 in PIK3CA) in pDNA from 7 patients (41%). Six mutations in pDNA were also identified in tDNA but seven were not. Six MBC patients with TP53 and/or PIK3CA mutations in pDNA had a significantly worse survival rate (P < .05) after recurrence than that of the other 8 MBC patients without these mutations. Carcinoembryonic antigen and cancer antigen 15-3 levels did not correlate with prognosis (P = .675 and P = .877, respectively). CONCLUSION: These results suggest that mutations in ctDNA can be detected with next generation sequencing in MBC patients and could be a more useful prognostic factor for survival after recurrence than conventional tumor markers.
BACKGROUND: Circulating tumor DNA (ctDNA) within a liquid biopsy is a promising marker for genotyping metastatic tumors. MATERIALS AND METHODS: We performed next generation whole exon sequencing of TP53 and PIK3CA genes, which are the 2 most common genetic alterations in breast cancer, in plasma DNA (pDNA) of 17 metastatic breast cancer (MBC) patients and in tumor DNA (tDNA) from their primary tumors. RESULTS: We identified 11 mutations (6 in TP53 and 5 in PIK3CA) in tDNA from 8 patients (47%) and 13 mutations (6 in TP53 and 7 in PIK3CA) in pDNA from 7 patients (41%). Six mutations in pDNA were also identified in tDNA but seven were not. Six MBCpatients with TP53 and/or PIK3CA mutations in pDNA had a significantly worse survival rate (P < .05) after recurrence than that of the other 8 MBCpatients without these mutations. Carcinoembryonic antigen and cancer antigen 15-3 levels did not correlate with prognosis (P = .675 and P = .877, respectively). CONCLUSION: These results suggest that mutations in ctDNA can be detected with next generation sequencing in MBCpatients and could be a more useful prognostic factor for survival after recurrence than conventional tumor markers.
Authors: Karolina Elżbieta Kaczor-Urbanowicz; Carmen Martín Carreras-Presas; Tadeusz Kaczor; Michael Tu; Fang Wei; Franklin Garcia-Godoy; David T W Wong Journal: J Cell Mol Med Date: 2016-11-13 Impact factor: 5.310
Authors: Nicholas Eastley; Aurore Sommer; Barbara Ottolini; Rita Neumann; Jin-Li Luo; Robert K Hastings; Thomas McCulloch; Claire P Esler; Jacqueline A Shaw; Robert U Ashford; Nicola J Royle Journal: Int J Mol Sci Date: 2020-06-24 Impact factor: 5.923
Authors: Natalia O Tuaeva; Luca Falzone; Yuri B Porozov; Alexander E Nosyrev; Vladimir M Trukhan; Leda Kovatsi; Demetrios A Spandidos; Nikolaos Drakoulis; Alexandra Kalogeraki; Charalampos Mamoulakis; George Tzanakakis; Massimo Libra; Aristides Tsatsakis Journal: Cells Date: 2019-10-14 Impact factor: 6.600