Cancer Risk Test

What is the Cancer Risk Test?

The Cancer Risk Test determines the risk on hereditary cancer by analysis of 30 genes involved in the genetic predisposition of cancer.

The Cancer Risk Test does not diagnose existing cancer, but identifies an increased risk to develop cancer, including cancer of the breasts, ovaria, uterus, intestines, stomach, pancreas, skin (melanoma) and prostate. When the Cancer Risk Test identifies a gene variant associated with an increased risk to develop cancer, a cancer screening and prevention plan can be set up.

The Cancer Risk Test analyzes 30 genes involved in the development of hereditary tumors and cancer of the breasts, ovaria, uterus, intestines, stomach, pancreas, skin (melanoma) and prostate. The 30 genes analyzed with the Cancer Risk Test are: BRCA1, BRCA2, APC, ATM, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDKN2A CDK4, CHEK2, EpCAM, GREM1, MLH1, MSH2, MSH6, MITF, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11 and TP53.

More than 1 on 3 persons develop cancer during their life and more than 1 on 5 die from it. Most cancers are not inherited, but cancer of the breasts, ovaria, uterus, intestines, stomach, pancreas, skin (melanoma) and prostate often are. Some people have a high risk to develop cancer due to the presence of gene variants in their genetic material (DNA), and this risk can be determined by the Cancer Risk Test. If a gene variant associated with an increased risk to develop cancer is found,  a personalized cancer screening and prevention plan can be set up to prevent cancer or to make a diagnosis in an early stage.

The Cancer Risk Test is also able to determine whether your children or other members of your family have an increased risk to develop cancer.

Table 1: Risk for different common tumors in women and men. An increased risk on tumors with an * are determined with the Cancer Risk Test.

TUMOR WOMEN MEN
Breast * 1 / 8 1 / 769
Ovaria* 1 / 76 —–
Uterus * 1 / 36 —–
Intestine * 1 / 23 1 / 21
Stomach * 1 / 152 1 / 93
Pancreas * 1 / 67 1 / 65
Skin * 1 / 61 1 / 35
Prostate * —– 1 / 7
Lung 1 / 17 1 / 14

Table 2: Percentage of inherited tumors. An elevated risk on tumors with an * are determined with the Cancer Risk Test.

TUMOR % INHERITED
Breast * 1 / 10
Ovaria * 1 / 8
Uterus * 1 / 10
Intestine * 1 / 20
Stomach* 1 / 50
Pancreas * 1 / 10
Skin * 1 / 20
Prostate * 1 / 20
Lung < 1 / 100

 

How long does a Cancer Risk Test take?

The Cancer Risk Test takes 2 months counting from the arrival of the sample at GENDIA to the reporting of the result.

 

How is a Cancer Risk Test performed?

The Cancer Risk Test analyzes 30 genes involved in the development of hereditary tumors  such as cancer of the breasts, ovaria, uterus, intestine, stomach, pancreas, skin (melanoma) and prostate.
The 30 genes analyzed with the Cancer Risk Test are: BRCA1, BRCA2, APC, ATM, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDKN2A CDK4, CHEK2, EpCAM, GREM1, MLH1, MSH2, MSH6, MITF, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11 and TP53.

The analysis consists of NGS sequence analysis, which determines both sequence variants as well as deletion-duplications in these 30 genes. The lab will anonymise the genetic information from the analysis of your DNA and store it in scientific databases to enhance our knowledge on gene variants. The Cancer Risk Test was developed and is performed by a lab in California, USA, whereas the test is accredited by the College of American Pathologists (CAP) and meets the certification demands for complex lab tests, as determined in the context of Clinical Laboratory Improvement Amendments (CLIA). By signing the Informed Consent form you acknowledge that your sample and personal information is transferred to the test laboratory in California, USA for the Cancer Risk Test.

Table 3: Genes analyzed in the Cancer Risk Test, and their association with cancer

GENE Breast Ovaria Uterus Intestine Stomach Pancreas Skin Prostate
GENE Breast Ovaria Uterus Intestine Stomach Pancreas Skin Prostate
BRCA1 ● ● ● ●
BRCA2 ● ● ● ● ●
MLH1 ● ● ● ● ●
MLH2 ● ● ● ● ●
MSH6 ● ● ● ●
PMS2 ● ● ●
EPCAM ● ● ● ● ●
APC ● ● ●
MUTYH ●
MITF ●
BAP1 ●
CDKN2A ● ●
CDK4 ●
TP53 ● ● ● ● ● ● ● ●
PTEN ● ● ● ●
STK11 ● ● ● ● ● ●
CDH1 ● ●
BMPR1A ● ● ●
SMAD4 ● ● ●
GREM1 ●
POLD1 ●
POLE ●
PALB2 ● ● ●
CHEK2 ● ● ●
ATM ● ●
NBN ● ●
BARD1 ● ●
BRIP1 ● ●
RAD51C ●
RAD51D ●

 

How do the results from the Cancer Risk Test look like?

The results will be mailed to you personally by e-mail.
If you want your physician or others to get a copy, you can indicate so on the form.

There are 3 possible results with the Cancer Risk Test:

  1. A gene variant with an elevated risk to develop cancer is found: This means you have an elevated and inherited risk to develop cancer. This does not mean that you have cancer or are certain to develop cancer in the future. But it is important to discuss the results with the GENDIA physician and your own physician in order to set up a personalized cancer screening and prevention plan to prevent cancer or to make a diagnosis in an early stage.
    Also your children and sibs might have inherited this gene variant, and they should also have this Cancer Risk Test.
  2. No gene variant associated with an elevated risk to develop cancer is found: You have no elevated risk to develop cancer due to a gene variant in one of the 30 genes analyzed by this test. This does not mean you will not develop cancer, just that no elevated risk could be found in the analyzed genes.
  3. A gene variant is found  with unknown significance (VUS): a VUS is not mentioned in the report, but every 6 months reassessed by the lab. If new information indicates that the VUS is associated with an elevated risk on developing cancer, you will be contacted by GENDIA to discuss all implications.

Which are the limitations of the Cancer Risk Test?

The Cancer Risk Test is intended to detect gene variants in 30 genes involved in hereditary cancer. As with all medical tests there is a small chance for a false-positive or false-negative result. A false-positive result means that the Cancer Risk Test detects a gene variant that is in fact not present. A false-negative result means the Cancer Risk Test does not detect a gene variant that is in fact present. In case of an allogeneic bone marrow transplantation (bone marrow from a donor), a blood transfusion within 7 days before the Cancer Risk Test, or with people with active hematologic malignancy (blood-related cancer such as leukemia, lymphoma or multiple myeloma), the Cancer Risk Test cannot be performed as these conditions can affect the accuracy of the test. Other sources of error include accidental sample exchange, poor sample quality or contamination, specific DNA sequence characteristics and technical lab errors.

The analysis is based on information from medical literature and scientific databases available on the time of the analysis. As literature and scientific knowledge is continuously updated, your result will be repeatedly tested on any new findings. You will be informed if needed.

Only gene variants that are clearly associated with an elevated risk on cancer (pathogenic variants) will be reported. As part of the test the lab also detects the presence of variants with an unknown clinical significance (VUS): these are gene variants as where further research is needed to determine whether they are associated with an elevated risk on cancer. The lab will inform you on VUS if an additional investigation enables us to overtake the meaning of the VUS.

The Cancer Risk Test is not a diagnostic test, it’s a risk-assessment test. The report is not intended to be a replacement for the advice of a counselor. By signing the Informed Consent, you acknowledge and accept that the results should be seen in the context of a wider medical treatment and no medical decisions should be made without consulting a medical counselor or physician.