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Hereditary Cancer Screening

Invitae® Multi-Cancer Panel

Hereditary cancer screening – including BRCA1 and BRCA2 –can help women and men understand their risk for the most common hereditary cancers, including breast, ovarian, colorectal, pancreatic and other cancers.

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About Invitae® MultiCancer Panel

Specimen Type: Saliva or blood sample

Collection Method: Home collection or clinic collection

The Invitae Multi-Cancer Panel analyzes genes that are associated primarily with adult-onset, non-syndromic cancer predisposition conditions across major organ systems including, but not limited to, breast, gynecologic (ovarian, uterine/endometrial), gastrointestinal (colorectal, gastric, pancreatic), endocrine (thyroid, parathyroid, pituitary, adrenal glands), genitourinary (renal/urinary tract, prostate), skin (melanoma, basal cell carcinoma), and brain/nervous system.

The genetic heterogeneity associated with these cancers can make it difficult to use phenotype as the sole criterion to select a definitive cause. Some genes in this test may also be associated with additional unrelated conditions, which are not included in the list of disorders tested.

Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counselling, or promote enrollment in clinical trials.

Why Order the Test

Develop a Personalized Plan for your Patient:

Knowing your patient has a mutation in one of the 70 genes analyzed – including BRCA1 and BRCA2 – enables you to develop a personalized plan for your patient designed to prevent or detect hereditary cancer at an earlier or more treatable stage. It may also allow for access to treatment options which require proof of positive genetic test results.

Detecting cancer early improves the odds of survival

28% of patients with disease-causing (pathogenic) variants found in the highest-risk cancer genes had changes to medical management.[1] In the JAMA Oncology study, 1 in 4 patients with a high-risk positive genetic result received genetics-based personalized cancer care. [1] The 5-year survival rates for cancers covered by the Hereditary Cancer Screening increase dramatically when they are caught at an earlier and more treatable stage.[5]

Why Mutations Matter

1 in 8 cancer patients may have an inherited gene variant[1]

Hereditary cancer is caused by an inherited genetic mutation. It is typical to see a recurring pattern of cancer across two to three generations—like multiple individuals diagnosed with the same type of cancer(s) and individuals diagnosed with cancer much younger than average. Everyone has a risk of carrying a mutation, regardless of family history, however the risk increases with the number of cases of cancer in a family.

Familial cancer refers to cancer that appears to occur more frequently in families than is expected from chance alone. While no specific mutation has been linked to these cancers, familial cancer may have a hereditary component that has not yet been identified.

Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person’s life. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle, or environmental exposure, that may contribute to the development of sporadic cancer.

A JAMA Oncology study found that hereditary cancer genetic testing for all patients with cancer—including colorectal, breast, ovarian, prostate, and pancreatic—uncovered disease-causing (pathogenic) inherited variants in 13.3% of patients.[1]

Without hereditary cancer genetic testing, a crucial part of their cancer puzzle may be missing. Patients who harbor hereditary variants could benefit from tailored management, including colorectal (~15%), breast (~12%), ovarian (~20%), prostate (~13%), and pancreatic (~15%) cancer.[1]

A mutation can greatly increase one’s risk for developing cancer.

Mutations in the genes covered are not common, but when present they significantly increase the chances of cancer.

For example, a BRCA1 mutation can increase a woman’s chance of breast cancer up to 81% by age 80.[2] An APC gene mutation can increase a man or woman's chances of colorectal cancer up to 70-100% by age 80 without surgical intervention.[3],[4]

How to Order Test

  1. Create Account

    To order the Invitae® Multi-Cancer Panel for your patients online, go to invitae.com/signup and create an account. If you prefer to order on a requisition, download paper requisition forms at invitae.com/forms.

  2. Order Kit

    Patient can receive a kit at home or the sample can be collected at your office. For home collection, choose the option to ship a saliva collection kit directly to your patient’s home. If you would like to collect your patient’s sample in your office, you can request a blood or saliva kit online at invitae.com/request-a-kit.

  3. Provide Sample

    Collect and ship sample to Invitae® following the instructions in the kit.

  4. Access Results

    You’ll receive a notification email from Invitae®. Simply log in to your Invitae® online account to view, save or print your patient’s report.

Genetic Counselling Available For your Patient

Dynacare offers you and your patient access to our team of genetic counsellors to answer any questions you may have about hereditary cancer screening and your patient’s results. You may also request a pre-test genetic counselling session for your patient.
Genetic counselling is available in English and French.

Understanding Results

Negative Results:

Most people receive a negative result. This means no mutations associated with an increased risk for hereditary cancer were identified in any of the 70 genes analyzed.

While this can be reassuring, it does not eliminate a patient’s risks. Environmental and lifestyle factors and family history without a known genetic link account for the majority of cancers.

Positive Results:

A small percentage of people receive a positive result.[6] This means a mutation that increases your risk for cancer was identified. This result does not mean that the patient has cancer or that they will definitely develop cancer in their lifetime. But it is important to discuss and design a personalized screening and prevention plan. A referral for genetic counselling is recommended for these patients.

Inconclusive Results:

Some people may get an inconclusive result. In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been confirmed to play a role in the development of disease, known as a variant of uncertain significance (VUS or VOUS), it can be difficult to tell whether it is a natural polymorphism or a disease-causing variant.

Results may affect relatives

A patient’s results could be useful to their relatives, regarding their own chances of developing cancer. Patients can be encouraged to share their results with relatives, as testing may be useful for them as well.

References

[1] Samadder NJ, et al. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncol. 2021 Feb 1;7(2) :230–237.

[2] King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group. Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2. Science. October 2003; 302(5645):643-6.

[3] Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastro. 2010 Jun; 138(6):2044-58.

[4] Burt RW, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastro. 2004 Aug; 127(2):444-51.

[5] SEER Stat Fact Sheets: Breast Cancer. Published November 2013. National Cancer Institute

[6] Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. January 2015;121(1):25-33. Pubmed Abstract