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Detection of PIK3CA and ESR1 mutations

PIK3CA and ESR1 mutations detection of ctDNA in peripheral blood of breast cancer patients using ARMS-PCR HRMA


  • Genes: PIK3CAESR1
  • MethodologyARMS-PCR HRMA
  • Instrumentation: LightCycler 2.0 (IVD, Roche Diagnostics)
  • Analytical characteristics: exceptional analytical sensitivity and specificity
  • Requested sample: 20mL peripheral blood (EDTA) - pre-, during or post-therapy 
  • Cost: please contact Dr E.Lianidou (lianidou@chem.uoa.gr)

 

  • Publications:
  1. Markou A, Farkona S, Schiza C, Efstathiou T, Kounelis S, Malamos N, Georgoulias V, Lianidou E. PIK3CA mutational status in circulating tumor cells can change during disease recurrence or progression in patients with breast cancer. Clin Cancer Res 2014;20:5823-34
  2. Markou A, Tzanikou E, Ladas I, Makrigiorgos M, Lianidou ES. NaME-PrO-assisted ARMS (NAPA): a novel approach for the improvement of ARMS-PCR specificity in liquid biopsies. Anal Chem 2019 Oct 15;91:13105-13111

 

  • Clinical Importance: Mutations in PIK3CA are correlated with the response to therapy with HERCEPTIN (trastuzumab) in HER-2 positive breast cancer patients

PubMed, 315 publications, 14/11/19

http://www.ncbi.nlm.nih.gov/pubmed/?term=HER-2+PIK3CA+mutations

 

  1. Black JD, et al. PIK3CA oncogenic mutations represent a major mechanism of resistance to trastuzumab in HER2/neu overexpressing uterine serous carcinomas. Br J Cancer. 2015 Sep 29;113(7):1020-6.
  2. Janiszewska M, et al. In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. Nat Genet. 2015 Oct;47(10):1212-9.
  3. Majewski IJ, et al. PIK3CA mutations are associated with decreased benefit to neoadjuvant human epidermal growth factor receptor 2-targeted therapies in breast cancer. J Clin Oncol. 2015 Apr 20;33(12):1334-9.
  4. Pogue-Geile KL, et al. Intrinsic subtypes, PIK3CA mutation, and the degree of benefit from adjuvant trastuzumab in the NSABP B-31 trial. J Clin Oncol. 2015 Apr 20;33(12):1340-7.
  5. Cescon DW, Bedard PL. PIK3CA genotype and treatment decisions in human epidermal growth factor receptor 2-positive breast cancer. J Clin Oncol. 2015 Apr 20;33(12):1318-21.