- For Whom?
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BreastScreenis suggested in the following cases:
• Breast cancer diagnosed ≤ 45 years (especially when diagnosed ≤ 35 years)
• Primary breast tumours in the same patient
• Bilateral breast cancer
• Breast cancer in males (at any age)
• A known mutation in the family in one of the genes associated with breast/ovarian cancer susceptibility
• Cancer in several members of the family in different generations
• Ovarian cancer in the family
• Breast and ovarian cancer diagnosed in the same patient
• Three or more cases of breast cancer, ovarian cancer and/or pancreatic cancer in the family
• Several members of the family (on the same side) with breast cancer or other types of cancer - What is diagnosed?
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BreastScreendiagnosis the susceptibility to the development of breast and ovarian cancer through DNA anaysis.
The genetic susceptibility test is addressed to those people who, from a thorough analysis of the family history, show a high and concrete incidence of neoplasms in previous generations and, therefore, have a high chance of carrying a germinal mutation.
BreastScreen®
A sophisticated genetic test aimed at evaluating the susceptibility to the development of breast and ovarian cancer
Procedure
The BreastScreentest 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, 13 genes (exons and adjacent intrionic regions, ± 5 nucleotides) that are often involved in hereditary susceptibility to the formation of breast and ovarian cancer, (Table 1) are completely 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?
- 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 of cancer
- Awareness that the genetic mutations may be transferred to the offspring and the detection of high-risk offspring with germinal genetic mutations
- The possibility to undergo prevention therapies
Statistics
Breast cancer
In-depth studies on families at risk show that women with hereditary mutation in BRCA1 or BRCA2 genes have an 87% chance of developing breast cancer, compared to 10% for women not carrying the mutation. Hereditary mutations at a genetic level lead to a sharp increase in the chance of developing breast cancer in young women (before the onset of menopause). Therefore, this is a specific result of the hereditary susceptibility for cancer. Recent studies showed that more than half of the women with mutations in BRCA genes develop breast cancer before their 50th birthday and the average age for the diagnosis of the tumour is 41.
Ovarian cancer
The risk of developing ovarian cancer in case of recurring mutations of the two genes mentioned above is between 44% and 60% compared to the 1% risk for non-carriers.
Recurring mutations
The genetic susceptibility test is very useful also for women who already developed breast cancer because, if they are carrying the BRCA gene, they have a high chance of developing a new tumour in the breast or the ovaries. For instance, studies show that BRCA1-mutation-carrying women surviving breast cancer have a 64% chance of developing the new tumour. Ovarian cancer shows similar risk percentages.
Risk of developing other types of cancer
Recent studies show that hereditary mutations of BRCA1 or BRCA2 genes increase the risk of prostate cancer in men and colon cancer in both sexes. The studies show that the likelihood of prostate cancer is 3-4 times higher compared to the general population in BRCA-mutation-carrying men, with a an 8% cumulative risk, while, according to research, the risk of colon cancer is 4-5 times higher both in women and in men, with a 6% cumulative risk. Possible preventive therapies to reduce the risk of developing cancer * In contralateral breast cancer. Parameters used for genetic variation reporting Only the genes listed in Table 1 are analysed. Only mutations classified as "with known pro".
If BreastScreen 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 BreastScreenhas a positive result
Presence of one or more mutations:
ithe result shows that there are one or more mutations in one (or more) genes leading to hereditary susceptibility to the development of breast and ovarian 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 tumour 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 tumour. 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:
BreastScreenevaluates 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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