- For Whom?
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The OncoScreening test is for:
- Those people who, from a thorough analysis of the family history, show a high and concrete incidence of neoplasms in previous generations
- When in the family there are:
• different relatives affected by the same type of tumor or correlated tumors
• relatives affected by multiple tumors
• tumors occurring at a young age - What is diagnosed?
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OncoScreening by analyzing their DNA identifies people at risk of developing a specific neoplasm.
OncoScreening is a diagnostic test aimed at evaluating the susceptibility to the development several types of hereditary cancer, such as:
• Breast cancer
• Ovarian cancer
• Colorectal cancer
• Gastric cancer
• Pancreatic cancer
• Prostate cancer
• Skin cancer (Melanoma)
• Endometrial cancer
• Kidney cancer
• Pheochromocytoma/ Paraganglioma
• Endometrial cancer
OncoScreening
A sophisticated genetic test aimed at evaluating the susceptibility to the development of several types of hereditary tumors
Procedure
The OncoScreening test is carried out with a blood sample. The DNA is isolated from the nucleated cells through a complex laboratory analysis and amplified via PCR. Then, with a state-of-the art process Massive Parallel Sequencing (MPS) that uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers, 72 genes (exons and adjacent intrionic regions, ± 5 nucleotides) (Table 1) are sequenced
The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if there are any mutations.
What are the benefits of the test?
Awareness that the genetic mutations may be transferred to the offspring and the detection of high-risk offspring with germinal genetic mutations
Finding family members with a high risk of developing cancer
The development of an adequate medical check plan for high-risk subjects, in order to promote early diagnosis when cancer appears
The possibility to undergo prevention therapie
Statistics
Only a small, even though significant, number of cancers are ”hereditary”. Today it is estimated that roughly 7% breast cancers, 10% ovarian cancers, 5-10% colorectal cancers and 20% medullary thyroid cancers have a hereditary component. In these tumors, the DNA mutations arise in germ or reproductive cells and therefore can be transmitted to descendants. The genetic defect is at birth on one or more genes in each of the organisms cells and therefore the person will develop a cancer if other mutations occur therefore adding to the predisposition at birth.
If OncoScreening has a negative result
No mutations:
the results show no mutations in the examined genes. However, a negative result does not necessarily mean that the patient does not risk developing a tumor. These people have the same chance of developing cancer as the general population.
If OncoScreening has a positive result
Presence of one or more mutations:
the results show that there are one or more mutations in one (or more) genes leading to hereditary susceptibility to the development of cancer; the test, therefore, shows a mutated copy of the gene.
A positive result does not necessarily mean that the patient with a mutation will develop a tumor; it only shows susceptibility to developing that type of tumor in the patient, or rather, the person has a higher risk level compared to a person without that specific mutation. In fact, not all people carrying mutations develop neoplasms. Although such mutations significantly increase the chance of developing a tumor, the cancer does not develop until the normal copy of the corresponding gene is mutated during the life of the person.
Since everyone inherits two pairs of the same gene, a mutation must occur in each pair to cancel the function of such gene. The acquisition of a new mutation may, therefore, directly lead to a tumor. Identifying cancer-susceptibility mutation allows us to develop an intense clinical check plan and evaluate preventive surgery.
Accuracy and test limits
Present DNA sequencing techniques are more than 99% accurate. One must remember that:
The test evaluates only the genetic diseases and the genes listed. The test does not evaluate other genetic diseases or genes not listed.
A “NEGATIVE” result- (no mutations result for the examined genes) does not exclude the possibility that one is a carrier of a mutation that is in a region of the genome that was not explored during the examination. In some cases, the results of a genetic analysis can show a variation or a DNA mutation with a clinically uncertain result not yet known or classified by the medical and scientific community. The interpretation of genetic variations is based on the most recent knowledge available at the time of the analysis. Such an interpretation could change in the future when new scientific and medical information regarding the genome structure and could influence the evalution of these variations.
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