Reference Detail

Ref Type
PMID (21189378)
Authors Klümpen HJ, Queiroz KC, Spek CA, van Noesel CJ, Brink HC, de Leng WW, de Wilde RF, Mathus-Vliegen EM, Offerhaus GJ, Alleman MA, Westermann AM, Richel DJ
Title mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome.
Journal Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Vol 29
Issue 6
Date 2011 Feb 20
URL
Abstract Text

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Variant Impact Protein Effect Variant Description Associated with drug Resistance
D194E missense loss of function - predicted STK11 D194E lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194E has not been biochemically characterized, but is associated with Peutz-Jehgers syndrome and is predicted to result in a loss of Stk11 protein function (PMID: 21189378).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STK11 D194E STK11 loss pancreatic cancer predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a pancreatic cancer patient with Peutz-Jeghers syndrome harboring STK11 D194E and loss of heterozygosity of the other STK11 allele in the tumor achieved a partial response following treatment with Afinitor (everolimus), but progressed after 9 months (PMID: 21189378). 21189378