Genetic testing for oncology
The confirmation test in the patient’s blood sample is required if a pathogenic genetic variant is found in the tumor.
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Genetic testing by cancer type
What should you know about cancer?
Cancer is a generic term for a large group of diseases that can affect any body part. Cancer is caused by the rapid creation of abnormal cells that grow beyond their usual boundaries, are not controlled by regulatory mechanisms, and can invade adjoining tissues and spread to other organs.
Cancer can start in almost any part of the human body, which is made up of trillions of cells.
Malignant tumors
When the tumor is malignant, it can spread to, or infiltrate, adjacent tissues. Also, as these tumors grow, some cancer cells break off and spread to other organs through the blood or lymphatic system and form new tumors away from the primary tumor.
Benign tumors
Unlike malignant tumors, benign tumors do not spread to adjacent tissues. However, benign tumors can sometimes be quite large and affect the persons life.
Although there are many screening cancer tests, but the most accurate diagnosis is made by examining a tissue biopsy specimen that is suspected of having cancer.
The most frequent types of cancer are:
Among men:
- Prostate cancer
- Lung cancer
- Colorectal cancer
Among women:
- Breast cancer
- Head and Neck cancers
- Lymphoma
РCancer is the leading cause of death worldwide. The highest mortality rates are shown for lung, gastric, colon, liver, and breast cancers.
Cancer types by localization
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Head and Neck cancers
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Esophageal and Esophagogastric Junction Cancers
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Kidney cancer
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Prostate cancer
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Hepatobiliary Cancers
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Lung cancer
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Gastric cancer
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Cutaneous (Skin) cancer
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Bladder cancer
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Female reproductive system
- Cervical cancer
- Endometrial carcinoma
- Ovarian Cancer/Fallopian Tube Cancer/Primary Peritoneal Cancer
A Brief Comparison of Molecular Methods in Oncology
Molecular genetic methods are primarily used in oncology for diagnosis clarification, disease prognosis, and for selection of the most effective therapy (including targeted cancer therapy)
Next-generation sequencing (NGS)
is the most advanced and promising method that allows performing whole genome, whole exome, and targeted sequencing. Sequencing multiple DNA fragments occurs in parallel, providing high information content at a relatively high speed. NGS can simultaneously assess the presence of various genetic abnormalities in DNA and RNA molecules, such as hotspot mutations (mutations with increased frequency in the population), single nucleotide variants (SNV), copy number variations (CNV), small insertions, deletions, and gene fusions.
Oncofocus is an excellent example of an NGS assay used in cancer laboratory diagnostics.
«Oncofocus is a targeted next-generation sequencing (NGS), a multi-biomarker assay based on the Ion Torrent platform that detects variants across 52 cancer-relevant genes.
Pros
- A universal method that is able to detect a wide range of mutations
- Allows to perform diagnostics without prior hypothesis
- Multiple candidate genes can be analyzed simultaneously
- Only requires 10 ng of DNA or RNA
- One of the most sensitive methods
Cons
- High cost
- The method is used to diagnose only solid tumors
Other molecular genetic methods used in oncology
FISH — fluorescent in situ hybridization
FISH (fluorescent in situ hybridization) — allows you to determine the exact location of the nucleotide sequences on the DNA or RNA, visualizing them with complementary fluorescent DNA probes. FISH detects chromosomal rearrangements (deletions, duplications, translocations, inversions). In oncology, it is most applicable to clarify the diagnosis and to determine tumor status when selecting therapy.
Detects chromosomal aberrations: deletions, duplications, translocations, inversions
Pros
- Fast results
Cons
- Expedient to use when a mutation in a particular chromosome is suspected (cannot serve as a screening test)
- Requires confirmation of tumor molecular profile by other methods
- Unable to detect intra-chromosomal aberrations, i.e. most abberation types
- False positive results are possible (1-5%)
- High cost
- Detects chromosomal aberrations: deletions, duplications, translocations, inversions
arrayCGH — comparative genomic hybridization on microarrays
arrayCGH (comparative genomic hybridization on microarrays) is a method that detects unbalanced chromosomal rearrangements (deletions and duplications) of the entire genome. During the analysis, test and control DNA are labeled with different fluorescent dyes, mixed and hybridized on microarrays with DNA probes, quantitatively comparing the intensity of fluorescence.
Pros
- Allows to analyze the presence of pathogenic variants in the whole genome simultaneously
Cons
- Indicates only the presence of a variant and requires additional methods for clarification
- Unable to detect balanced chromosomal rearrangements and point nucleotide variants (replacements, deletions, insertions)
- Demanding to the incoming DNA concentration
- High cost
PCR — Polymerase Chain Reaction
PCR (polymerase chain reaction) is a simple and effective laboratory diagnostic method that allows multiple copies of specific DNA or RNA fragments to be multiplied for qualitative or quantitative assessment of the fragment sought. In oncology, it can be used to detect single-nucleotide genetic variants (allele-specific PCR) or microRNA. More often, however, PCR is part of more sophisticated diagnostic methods, such as sequencing. In addition, PCR is widely used to detect the presence of potentially carcinogenic pathogens (HPV types 16 and 18, EBV infections, HBV and HCV, retroviruses, etc.).
Detects the presence of potentially carcinogenic pathogens HPV types 16 and 18, EBV infection, HBV and HCV, retroviruses, etc.
Pros
- Relatively inexpensive
- Accessible
- Enables detection of potentially carcinogenic viral and bacterial DNA/RNA agents
- Allows use of any biomaterial containing DNA or RNA
Cons
- False positive results may occur
- In diagnostic laboratories the analysis is usually limited to searching for the most common mutations in a given population
- For best performance, it must be combined with other methods
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
Security
Extensive control at each stage of testing
No delivery fees
Free delivery of biomaterial across Russia
Charities
Email info@f-genetics.com for information
