GeneGlobe ID: SMH-3007AA | Cat. No.: 337021 | qBiomarker Somatic Mutation PCR Arrays
qBiomarker™ Somatic Mutation PCR Array Human Cancer Comprehensive 384HC
Product Specification
PCR plate and master mix
Target List
ABL1
The mutations queried by these assays mostly lie in the protein kinase domain.
AKT1
The best known AKT1 mutations are c.49G>A, p.E17K, a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane, and an activating mutation, c.145G>A, p.E49K.
AKT3
The mutation assay detects an activating AKT3 mutation c.511G>A, p.G171R.
ALK
The most frequently observed gain-of-function ALK mutations occur in the protein’s tyrosine kinase domain from amino acids 1116 to 1383.
APC
The most commonly detected APC inactivation mutations are mainly composed of truncation mutations (due to nonsense mutations and frameshift mutations) and point mutations between codons 1250 and 1578.
ATM
The most commonly detected ATM loss-of-function mutations occur in the FAT, FATC and kinase domains.
BRAF
Common point mutations in BRAF either increase kinase activity, such as L597V, L597Q and V600E, or inhibit kinase activity, such as G464V, G466V and G469A.
CBL
The most frequently occurring mutations in this gene reside in its RING-type, or zinc finger-like, domain in an Asp/Glu-rich (acidic) region likely involved in its ubiquitination activity. Other mutations include p.R420Q and p.K382E, which impair CBL-mediated degradation of cell-surface receptors in a dominant-negative fashion, and p.Y371H, which should reduce tyrosine phosphorylation by the insulin receptor.
CDH1
The most important CDH1 mutations are either missense mutations or frameshift mutations that lead to C-terminal truncation and secreted E-cadherin fragments.
CDKN2A
The most important CDKN2A loss-of-function mutations occur in the consensus ankyrin domain, which lead to the inability to form stable complexes with its targets.
CEBPA
The p.K304_Q305insL mutation lies in the DNA binding basic motif of the protein.
CRLF2
This novel gain-of-function mutation synergizes with JAK2 R683 mutations to confer cytokine-independent growth to BaF3 pro-B cells.
CSF1R
This mutation near the C-terminus that corresponds to SNP variant rs1801271 abolishes the down-regulation of activated CSF1R.
CTNNB1
The most frequently detected CTNNB1 mutations result in abnormal WNT signaling activity. The mutated codons are mainly several serines and threonines targeted for phosphorylation by GSK3B.
EGFR
These assays detect the most frequently identified EGFR mutations, which include P-loop and activation loop point mutations, kinase domain deletions, and insertion mutations.
ERBB2
The most frequently identified activating ERBB2 mutations cluster in its kinase domain.
EZH2
All detected mutations lie in the SET domain responsible for histone lysine methyltransferase activity.
FBXW7
These mutation assays detect FBXW7 variants in either the third or the fourth repeat of the protein's WD40 domain, which is involved in protein-protein interactions.
FGFR1, FGFR2, FGFR3
The most frequently identified FGFR mutations occur in their kinase domains and non-kinase extracellular domains such as the hinge regions and IgG-like domains. Some of the somatic mutations also correspond to congenital SNPs involved in genetic diseases.
FLT3
The most frequently identified FLT3 variants include point mutations, insertions and deletions in the juxtamembrane and activation loop domains of the protein.
FOXL2
This mutation lies in wing 2 of the forkhead domain, a divergent component of the domain's secondary structure with unknown function, but the mutation does seem to inhibit the protein's pro-apoptotic function.
GATA1
GATA1 plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia.
GATA2
GATA2 is a negative regulator of hematopoietic stem cell and progenitor cell differentiation. This mutation lies within the second zinc finger domain and causes a gain-of-function that increases transactivation activity and enhances inhibition of PU.1 activity, a major regulator of myelopoiesis.
GNAQ
The mutations queried by these assays all lie in the protein's GTP nucleotide binding domain.
GNAS
Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.
HNF1A
These mutations are expected to interfere with DNA binding.
HRAS
The mutation assays detect the most important HRAS variants, all found in codons 12, 13, and 61.
IDH1
Most of these mutations abolish magnesium binding and alter the enzyme's activity to convert alpha-ketoglutarate into R(-)-2-hydroxyglutarate instead of isocitrate into alpha-ketoglutarate.
IDH2
These mutations all lie in the substrate binding domain, and one (p.R140Q) is associated with D-2-hydroxyglutaric aciduria.
JAK2
Most of these mutations lie in protein kinase domain 1. One mutation (p.V615F) confers cytokine-independent growth to BaF3 pro-B cells. Mutations at R683 lead to constitutive tyrosine phosphorylation activity promoting cytokine hypersensitivity and are associated with susceptibility to Budd-Chiari syndrome.
KIT
The most frequently identified KIT gain-of-function mutations include the D816V point mutation; point mutations in, and a deletion of, exon 11 (the juxtamembrane domain); an exon 9 insertion; as well as exon 13 point mutations.
KRAS
The mutation assays detect the most frequently occurring KRAS mutations in codons 12, 13, and 61. Mutations at these positions reduce the protein’s intrinsic GTPase activity and/or cause it to become unresponsive to RasGAP.
MAP2K1
The most important MAP2K1 variants cluster in the protein’s N-terminal negative regulatory domain and an adjacent domain, and they all activate the protein by increasing its intrinsic kinase activity.
MET
The most frequently identified MET gain-of-function point mutations lie in its tyrosine kinase and juxtamembrane domains.
MPL
These mutations are predicted to lie at a junction between a transmembrane helix and a cytoplasmic domain.
NF2
NF2 is similar to some members of the ERM family of proteins (ezrin, radixin, moesin) and links cell-surface proteins with cytoskeletal components and proteins involved in cytoskeletal dynamics. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities.
NOTCH1
Most of the represented mutations lie in the NOTCH1 protein's predicted cytoplasmic domains.
NOTCH2
The most frequently observed NOTCH2 truncation mutation is R2400*.
NPM1
NPM1 encodes a phosphoprotein that shuttles between the nucleus and the cytoplasm and is thought to be involved in regulation of the ARF/p53 pathway. A number of gene fusion events with NPM1 have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia.
NRAS
The mutation assays detect the most important NRAS variants, all found in codons 12, 13, and 61.
PDGFRA
The most frequently identified PDGFRA gain-of-function variants include deletions, insertions, and point mutations in the regions of p.D842-S847 and p.R554-E571 as well as the specific point mutations p.N659Y and p.T674I.
PIK3CA
The most frequently detected PIK3CA gain-of-function mutations occur either in the kinase domain (T1025-G1049, such as H1047L and H1047R) that increase its activity or in the helical domain (P539-E545) which mimic activation by growth factors.
PIK3R1
The mutation assays detect two recurrent disinhibitory PIK3R1 mutations, c.1126G>A, p.G376R and c.1690A>G, p.N564D, the latter of which causes increased basal kinase activity and lipid binding.
PIK3R5
The mutation assay detects a recurrent oncogenic mutation in PIK3R5.
PTCH1
The detected PTCH1 mutations constitutively activate the Hedgehog signaling pathway and the GLI transcription factors, which increases gene expression involved in tumor cell growth, differentiation, and proliferation.
PTEN
The most commonly detected PTEN loss-of-function mutations either truncate the protein (such as K6fs*4, R130*, R130fs*4, R233*, P248fs*5, and V317fs*3) or cause phosphatase inactivation (such as those at R130 and R173).
PTPN11
The most frequently identified PTPN11 variants include mutations in or near the N-terminal SH2 domain and PTP-interacting surface as well as mutations that affect substrate specificity.
RB1
The most recurrent loss-of-function mutations in the RB1 tumor suppressor gene either truncate the protein or disrupt interactions with its binding partners.
RET
The mutations p.E768D, p.A883F, and p.M918T lie in the protein kinase domain and soluble RET kinase fragment. Most of the remaining mutations lie in predicted extracellular domains.
RUNX1
RUNX1 is the alpha subunit of the core binding factor that is thought to be involved in normal hematopoiesis. Chromosomal translocations involving this gene have been associated with several types of leukemia.
SMAD4
SMAD4 encodes a member of the Smad family of signal transduction proteins. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome.
SMARCB1
SMARCB1, as part of a complex, relieves repressive chromatin structures, allowing the transcriptional machinery to more effectively access its targets. Mutations in this tumor suppressor gene have been associated with malignant rhabdoid tumors.
SMO
The detected SMO mutation constitutively activates the Hedgehog signaling pathway and the GLI transcription factors, which increases gene expression involved in tumor cell growth, differentiation, and proliferation.
STK11
The most commonly detected STK11 inactivation variants either are point mutations or truncate the protein.
TET2
The most common variants of this gene are C-terminal truncations missing its two glutamine-rich regions, all of its metal binding site residues, and a phosphoserine and a phosphotyrosine site.
TP53
The most frequently detected somatic TP53 mutations occur in the DNA-binding domain which disrupt DNA binding and/or protein structure.
TSHR
The represented mutations lie in the transmembrane region of this protein and often induce a gain-of-function by increasing basal cAMP levels but could also make the protein slightly less responsive to TSH stimulation. Other mutations lie in either the cytoplasmic or extracellular domains of the protein.
VHL
Included on the panel are 6 of the most commonly detected VHL point mutations or truncation mutations that lead to loss of tumor suppressor function of the VHL protein.
WT1
The WT1 transcription factor plays an essential role in normal urogenital system development. A small subset of patients with Wilm's tumors contains mutations in this gene.
Product Resources
File Size: 187.81 KBLanguage: English
Resources
Supplementary Protocols (7)
Download Files (1)
Safety Data Sheets (1)
Instrument Technical Documents (2)
Performance Data (3)
Kit Handbooks (1)
White Papers (1)
Articles (1)
Application Notes (1)
Certificates of Analysis (1)
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