Journal
CANCERS
Volume 15, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/cancers15092632
Keywords
ESR1 mutation; primary breast cancer; minor clone; clamping PCR; droplet dPCR
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A highly sensitive mutation detection method called LNA-clamp ddPCR was developed and validated in this study. By using this method, it was found that 12.7% of patients with primary breast cancer had ESR1 mutations, with Y537S and D538G being the most common mutations. The study also demonstrated the presence of minor clones with a VAF of <0.1%.
ESR1 mutations in breast cancer are one of the mechanisms of resistance to aromatase inhibitors. These mutations are common in metastatic breast cancer; however, these are rare in primary breast cancer. However, these data have been analyzed mainly in formalin-fixed, paraffin-embedded tissue; thus, rare mutations that may be present in primary breast cancer may be overlooked. In this study, we developed a highly sensitive mutation detection method called locked nucleic acid (LNA)-clamp droplet digital PCR (ddPCR) and validated it. The mutation detection sensitivity was substantiated to 0.003%. Then, we used this method to analyze ESR1 mutations in fresh-frozen (FF) tissues of primary breast cancer. cDNA extracted from the FF tissues of 212 patients with primary breast cancers were measured. Twenty-eight ESR1 mutations were found in twenty-seven (12.7%) patients. Sixteen (7.5%) patients had Y537S mutations and twelve (5.7%) had D538G mutations. Two mutations with a variant allele frequency (VAF) of =0.1% and twenty-six mutations with a VAF of <0.1% were found. By using this LNA-clamp ddPCR, this study demonstrated the presence of minor clones with a VAF of <0.1% in primary breast cancer.
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