Pan Qi,Ding Keyue.Droplet digital PCR validates a novel nonsense somatic mutation in MSH2 in hepatic carcinoma[J].J Amry Med Univ (J Third Mil Med Univ),2015,37(23):2368-2372.
Pan Qi,Ding Keyue.Droplet digital PCR validates a novel nonsense somatic mutation in MSH2 in hepatic carcinoma[J].J Amry Med Univ (J Third Mil Med Univ),2015,37(23):2368-2372.DOI:
Objective To validate a novel nonsense somatic mutation in MSH2 of a patient with primary hepatocellular carcinoma using droplet digital PCR (ddPCR). Methods ddPCR was used to validate a novel nonsense mutation in MSH2 identified by whole exome sequencing. Qualitative and quantitative analyses were performed in the liver cancer tissues and adjacent non-cancerous tissues. Results ddPCR validated that the nonsense mutation (rs63751009
g. chr2:47630358 CT
c.28 CT
p.Q10*) in MSH2 occurred in the liver cancer tissues rather than the adjacent non-cancerous tissues. The allelic fraction of the nonsense mutation obtained from ddPCR was 0.4
which was similar with that estimated from the whole-exome sequencing. Conclusion ddPCR is a new
rapid and accurate method for mutation analysis with high sensitivity and accuracy.