Call 8 (800) 201 67 33
Oncoprofile
What is the oncoprofile test?
Oncoprofile is an NGS-based assay that includes a panel of genes frequently involved in carcinogenesis.
Unlike Oncofocus, Oncoprofile includes an expanded spectrum of genes whose abnormalities are responsible for both «adult» and juvenile forms of cancer, as well as identifying genetic variants associated with hereditary cancer syndromes such as:
- Hereditary breast and ovarian cancer syndrome
- Li-Fraumeni syndrome
- Ataxia telangiectasia (Louis-Bar syndrome)
- Fanconi anemia
- Lynch syndrome
- Peutz-Jeghers syndrome
- PTEN-associated hamartoma tumor syndrome (Cowden syndrome)
- Neurofibromatosis types I and II
- Familial atypical nevi and melanoma syndrome/Dysplastic nevus syndrome/Melanoma-astrocytoma syndrome
- Hereditary retinoblastoma
- Tuberous sclerosis (Burneville’s disease)
Oncoprofile assay contains 161 genes
- Hotspots (SNV/InDels)
- Full coding sequence of genes
- copy number variations (CNV)
- inter and intra chromosomal rearrangements (chimeric gene variants)
Consulting with a clinical geneticist and an oncologist to interpret Oncoprofile test results and select cancer therapy is required.
AKT1
AKT2
AKT3
ALK
AR
ARAF
AXL
BRAF
BTK
CBL
CCND1
CDK4
CDK6
CHEK2
CSF1R
CTNNB1
DDR2
EGFR
ERBB2
ERBB3
ERBB4
ERCC2
ESR1
EZH2
FGFR1
FGFR2
FGFR3
FGFR4
FLT3
FOXL2
GATA2
GNA11
GNAQ
GNAS
H3F3A
HIST1H3B
HNF1A
HRAS
IDH1
IDH2
JAK1
JAK2
JAK3
KDR
KIT
KNSTRN
KRAS
MAGOH
MAP2K1
MAP2K2
MAP2K4
MAPK1
MAX
MDM4
MED12
MET
MTOR
MYC
MYCN
MYD88
FE2L2
NRAS
NTRK1
NTRK2
NTRK3
PDGFRA
PDGFRB
PIK3CB
PIK3CA
PPP2R1A
PTPN11
RAC1
RAF1
RET
RHEB
RHOA
ROS1
SF3B1
SMAD4
SMO
SPOP
SRC
STAT3
TERT
TOP1
U2AF1
XPO1
ARID1A
ATM
ATR
ATRX
BAP1
BRCA1
BRCA2
CDK12
CDKN1B
CDKN2A
CDKN2B
CHEK1
CREBBP
FANCA
FANCD2
FANCI
FBXW7
MLH1
MRE11
MSH6
MSH2
NBN
NF1
NF2
NOTCH1
NOTCH2
NOTCH3
PALB2
PIK3R1
PMS2
POLE
PTCH1
PTEN
RAD50
RAD51
RAD51B
RAD51C
RAD51D
RNF43
RB1
SETD2
SLX4
SMARCA4
SMARCB1
STK11
TP53
TSC1
TSC2
AKT1
AKT2
AKT3
ALK
AXL
AR
BRAF
CCND1
CCND2
CCND3
CCNE1
CDK2
CDK4
CDK6
EGFR
ERBB2
ESR1
FGF19
FGF3
FGFR1
FGFR2
FGFR3
FGFR4
FLT3
IGF1R
KIT
KRAS
MDM2
MDM4
MET
MYC
MYCL
MYCN
NTRK1
NTRK2
NTRK3
PDGFRA
PDGFRB
PIK3CB
PIK3CA
PPARG
RICTOR
TERT
AKT2
ALK
AR
AXL
BRCA1
BRCA2
BRAF
CDKN2A
EGFR
ERBB2
ERBB4
ERG
ESR1
ETV1
ETV4
ETV5
FGFR1
FGFR2
FGFR3
FGR
FLT3
JAK2
KRAS
MDM4
MET
MYB
MYBL1
NF1
NOTCH1
NOTCH4
NRG1
NTRK1
NTRK2
NTRK3
NUTM1
PDGFRA
PDGFRB
PIK3CA
PRKACA
PRKACB
PTEN
PPARG
RAD51B
RAF1
RB1
RELA
RET
ROS1
RSPO2
RSPO3
TERT
Indications for the Oncoprofile
The Oncoprofile test is indicated in patients with a confirmed diagnosis of cancer and when one of the above syndromes is suspected for:
- Tumor molecular profiling
- Therapy selection
- Evaluation of unfavorable prognosis
- Therapy monitoring and correction if the cancer recurrence occurs
- Detection of several hereditary cancer syndromes (*The confirmation test in the patient’s blood sample is required if a pathogenic genetic variant is found in the tumor)
3 928 338people
with a cancer diagnosis are registered in Russia in 2019
640 391 cases
when cancer was first detected
21.7%
of patients with malignant tumors died within the first year after diagnosis in 2019
Accurate and on-time cancer diagnostics and the «right» personalized therapy selection are crucial for cancer patients and are a primary direction for national oncology.
NGS can simultaneously read
hundreds of millions of short DNA sequences
all types of mutations, including structural rearrangements, which distinguishes it favorably from PCR analysis and sequencing by Sanger
NGS Data Processing
makes it possible to find differences in the tumor DNA sequence from the reference genomic sequence
The revealed differences are called nucleotide sequence variants or:
Nucleotide variants
- germinal (congenital — pathogenic, or polymorphisms)
- tumor-specific somatic mutations
How exactly does Next Generation Sequencing (NGS) work?
NGS can simultaneously read hundreds of millions of short sequences of DNA and detect all types of mutations, including
Full-length genes
Hotspots (SNV/InDels)
Copy number variations (CNV)
Chromosomal aberrations (gene fusions)
«These „„reads““ contain a large amount of information about the genetic sequence. The following bioinformatic data analysis finds differences between the tumor DNA sequence and the reference genomic („„golden standard““). NGS data analysis is time-consuming and requires specific software and various bioinformatics algorithms.»
The massive list of detected variants is then «interpreted» by comparing the results with databases that list known or newly seen variants associated with various cancers. Interpretation and sequencing are complex and time-consuming because it involves the work of many specialists to determine the clinical and therapeutic significance of each detected variant.
Advantages
- High sensitivity and specificity of the method
- Fast turnaround time of the test
- Simultaneous detection of all types of mutations, including structural rearrangements
- Minimum requirements for sample quantity and quality
- Shorter testing times
How to request the Oncoprofile test?
1
2
Fill out an informed consent form and submit an application
Download and fill out the informed consent form
3
Pay for the test via website
4
Prepare a H&E slide and corresponding FFPE sample
5
Call the courier 8 (800) 201 67 33
A courier will collect histological material and take it to the laboratory free of charge.
6
Receive the results by email
The results of the test can only be interpreted by a geneticist or oncologist.
First Genetics Laboratory
Specialists
Years of experience in genetics, laboratory diagnostics and bioinformatics
Confidentiality
All data is strictly confidential and cannot be passed on to third parties
Time frame
Results ready in a short time
Надежность
Особый контроль на каждом этапе проведения исследования
Security
Free delivery of biomaterial across Russia
Charities
Email info@f-genetics.com for information
