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Beaver, J.A., Jelovac, D., Balukrishna, S., Cochran, R.L., Croessmann, S., Zabransky, D.J., Wong, H.Y., Valda Toro, P., Cidado, J., Blair, B.G., Chu, D., Burns, T., Higgins, M.J., Stearns, V., Jacobs, L., Habibi, M., Lange, J., Hurley, P.J., Lauring, J., Van Den Berg, D.A., Kessler, J., Jeter, S., Samuels, M.L., Maar, D., Cope, L., Cimino-Mathews, A., Argani, P., Wolff, A.C. and Park, B.H. (2014) Detection of Cancer DNA in Plasma of Patients with Early-Stage Breast Cancer. Clinical Cancer Research, 20, 2643-2650.
https://doi.org/10.1158/1078-0432.CCR-13-2933

has been cited by the following article:

• TITLE: Detection of the PIK3CA Mutation in Circulating Tumor DNA as a Possible Predictive Indicator for Poor Prognosis of Early-Stage Breast Cancer

  AUTHORS: Ayaka Sato, Masahiko Tanabe, Yumi Tsuboi, Masako Ikemura, Keiichiro Tada, Yasuyuki Seto, Yoshinori Murakami

  KEYWORDS: Early-Stage Breast Cancer, PIK3CA, Circulating Tumor DNA, Plasma, Droplet Digital PCR

  JOURNAL NAME: Journal of Cancer Therapy, Vol.9 No.1, January 26, 2018

  ABSTRACT: Objectives: Circulating tumor DNA (ctDNA) is shown to provide the real-time genomic information of metastatic breast cancer. This study elucidates the clinico-pathological significance of ctDNA in early-stage breast cancer using the PIK3CA mutation as an indicator. Materials and Methods: Twenty-seven primary breast cancers without metastasis were surgically resected and pathologically diagnosed at the University of Tokyo Hospital, Japan. Genomic DNA of primary tumor was extracted from formalin-fixed and paraffin-embedded specimens. ctDNA was extracted from fresh-frozen plasma from patients. The PIK3CA mutations at E542K, E545K and H1047R were examined by Sanger sequencing or droplet digital PCR in 27 tumors and pre- and post-surgery plasma. Results: The PIK3CA mutations were detected in 13 (48%) of 27 primary tumors. These mutations did not significantly correlate with specific clinico-pathological characteristics of tumors. When ctDNA was examined, 4 (33%) of 12 cases carrying the mutated PIK3CA showed the identical mutation in pre-surgery plasma and 2 (50%) of them showed the identical mutations in post-surgery plasma. Interestingly, in these 2 cases in pathological stages IIIA and IA, fractional abundance of the mutated PIK3CA alleles to the total alleles in pre-surgery ctDNA was around 1% or more and was higher than that of the other two cases without PIK3CA mutations in post-surgery ctDNA. Conclusions: The PIK3CA mutation in ctDNA is detectable even in a subset of early-stage breast cancer. Furthermore, fractional abundance of the mutated PIK3CA in pre-surgery ctDNA could provide a possible predictive indicator for tumor burden and for choosing the appropriate adjuvant treatment of breast cancer.