Hereditary cancer

Background:
We offer at limited scope of genetic tests to assess the risk to develop some kinds of cancer for healhty individuals. The kinds of cancer are mainly hereditary breast cancer, ovarian cancer, colon cancer, uterine cancer and skin cancer (malign melanoma).
Please note that this is not a test to find an ongoing disease.
The scope of this test in regards to what is analysed for and the quality is the same as what is offered to individuals that are offered testing within the public health sector in Sweden.
The test is mainly intended for individuals that for some reason are not offered this test by the public health sector but want to pay for it by themselves.
Scope of testing and limitations:
As the provider of the test, it is important for us to ahead of testing discuss and ensure that the expectations of the test are in line with what is offered. Hence, we want to clarify the following
  • The expected result from these tests means that a only a minority are carriers of high-risk genes that will need further investigation and clinical follow-up.
  • The analysis contains genes that are rare and known to be pathological (associated with disease) sequences that give a high risk for specific types of cancer. The identification of pathological genes might mean that other relatives might have the same gene.
  • At the time of analysis genetic variations that with today’s knowledge can not be considered pathological or neutral might be found. These unclear variants will not be reported.
  • The analysis does not include common variants (SNPs) that by themselves give a slightly increased risk but if the individual have multiple SNPs can give an increased “polygenic” risk.
  • A negative test result (not finding a pathological gene) does not exclude the possibility that the tested individual might have an increased risk of cancer compared to the background risk of the general population.
  • A negative test result does not exclude the possibility that the tested individual has a relative or close relative with a pathological gene in one of the analysed genes (a gene that was not inherited by the tested individual)
  • At the moment we do not have any aggrement with the public health sector (Västra Götalandsregionen) that allow us to refer individuals that show a high genetic risk for breastcancer or ovarialcancer to a specialised clinic. However, this can often be handled with that is called aa “egenremiss”, Swedish for self-referral.
We offer analysis on the following:
  1. Suspected hereditary breast cancer – genes being analyzed: BRCA1, BRCA2, TP53, PALB2, CHEK2 (trunkerande), ATM (trunkerande)
  2. Suspected hereditary ovarian cancer – genes being analyzed: BRCA1, BRCA2, PALB2, MLH1, PMS2, MSH2, MSH6, EPCAM, BRIP1, RAD51C, RAD51D
  3. Suspected Lynch syndrome / PPAP – genes being analyzed: MLH1, PMS2, MSH2, MSH6, EPCAM, POLE, POLD1
  4. Suspected colon polyposis – genes being analyzed: APC, SMAD4, BMPR1A, MUTYH, STK11, PTEN,
    POLE, POLD1
  5. Malignant melanoma – genes being analyzed: CDKN2A, CDK4, BAP1
How the test is performed:
Testing is done via a venous (common) blood sample at our clinic in Gothenburg. At the time of the visit, you will be given information about what the test can show, the consequenses and the limitations as described above.
We will ask you to sign a letter of informed consent as is common practice when ordering genetic analysis, the informed consent will be saved. When we have received the result from the lab we will contact you again to discuss the result. You will receive the result within 2 months. The test, identity and the result will be saved for a limited period (around 2 months for the test and 6-12 months for your identity and result) and will after that be destroyed.
In accordance with GDPR you can request the destruction and erasure of your data ahead of this period.

Price: 14 125 SEK (no additional VAT)
Country of analysis: Sweden
Booking: contact us here or at info@gendoktorn.se

Hereditary cancer