SNPMiner Trials by Shray Alag


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Report for Mutation N550K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Pilot Evaluation of Ponatinib (AP24534), a Potent Oral Pan-FGFR Inhibitor, in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma: a Multi-Institutional Study

To test the patient's cancerous tumor to see if it has a FGFR mutation and, if so, to see how their cancer responds to a treatment with the drug ponatinib as well as examine the side effects caused by ponatinib.

NCT01888562 Endometrial Neoplasms Drug: Ponatinib
MeSH: Endometrial Neoplasms
HPO: Endometrial carcinoma

Activating mutations are defined as the known FGFR2 hotspots at S252W, P253R, S373C, Y376C, C383R, N550K, N550H, K660E. --- S252W --- --- P253R --- --- S373C --- --- Y376C --- --- C383R --- --- N550K ---

Primary Outcomes

Description: Ponatinib in patients with recurrent or persistent endometrioid endometrial cancer (FGFR2 activating mutation positive)for tumor responses (CR + PR) Complete Response (CR): Disappearance of all target lesions. Any pathological lymph nodes (whether target or non-target) must have reduction in short axis to <10 mm. Partial Response (PR): At least a 30% decrease in the sum of the diameters of target lesions, taking as reference the baseline sum diameters.

Measure: Tumor responses (CR + PR)

Time: 6 months

Description: Ponatinib in patients with recurrent or persistent endometrioid endometrial cancer (FGFR2 activating mutation positive) by evaluating progression-free survival Progression-free survival is defined as the duration of time from start of treatment to time of progression or death, whichever occurs first.

Measure: Progression Free survival

Time: 6 months

Secondary Outcomes

Description: Progression Free Survival is defined as the duration of time from start of treatment to time of progression or death, whichever occurs first.

Measure: Progression Free Survival

Time: 5.5 years

Description: Overall survival is define as date from time of initial treatment to date of death from any cause.

Measure: overall survival

Time: 5.5 years

Description: Frequency and severity as defined by CTCAE v 4.0

Measure: Toxicity of Ponatinib

Time: 1 year


HPO Nodes


Endometrial carcinoma
Genes 23
PMS2 SDHB CDH1 GREM1 POLD1 NTHL1 MSH6 BMPR1A POLE SDHC KLLN MSH2 MSH6 SDHD SEC23B MSH6 PTEN MLH1 POLD1 PIK3CA MLH3 AKT1 MSH3