Genetics Report
Report generated: Thu Jul 28 02:05:39 CST 2011
Name: Gordon Moore
Sex: Male
Age: 82 (January 3, 1929)
Sequencing of the 30 -gene panel of druggable cancer genes identified this patient carries 25 (of 354; 7.06%) potentially harmful variants in 4 (of 30; 13.33%;) of the surveyed genes. Relative to a reference population, this gives a prognosis of "healthy".
PTEN phosphatase and tensin homolog     12 Harmful Variants Non-Druggable Next Step
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq]
APC adenomatous polyposis coli     10 Harmful Variants Non-Druggable Next Step
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq]
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2       
BCR breakpoint cluster region
BRAF v-raf murine sarcoma viral oncogene homolog B1       
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset       
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
EGFR epidermal growth factor receptor    3 Novel Variants   
ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)       
FLT3 fms-related tyrosine kinase 3
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble       
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
JAK2 Janus kinase 2    7 Novel Variants   
KDR kinase insert domain receptor (a type III receptor tyrosine kinase)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog       
KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
MAP2K1 mitogen-activated protein kinase kinase 1       
MAP2K4 mitogen-activated protein kinase kinase 4
MTOR mechanistic target of rapamycin (serine/threonine kinase)    2 Harmful Variants   
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog       
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide    1 Harmful Variant   
PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)       
SNAP25 synaptosomal-associated protein 25 isoform
TP53 tumor protein p53       
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