The Hereditary Cancer Clinic is part of the Regional Genetics Program and is located at CHEO. We specialize in the assessment of children, adults, and families with familial or hereditary forms of cancer predisposition. We offer genetic counselling and genetic testing services if indicated. Through partnership with the Ontario Breast Screening Program (OBSP) we also provide women with a personal or family history of breast and/or ovarian cancer with a personalized breast cancer risk assessment.
Our goal is to identify individuals and families who may be at an increased risk of developing specific types of cancer and to inform them about the appropriate prevention and screening recommendations available.
Who are we?
Our services are provided by a team consisting of genetic counsellors, geneticists and administrative/clerical staff.
Privacy and your Genetics visit
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As of April 2018, Cancer Care Ontario (CCO) is permitted to collect personal health information (PHI) from CHEO and other health information custodians for the purpose of facilitating or improving the provision of health-care.
What does this mean for me as it relates to my care?
Before this change, you would have been asked to sign a Release of Personal Health Information in order for your information to be sent to Cancer Care Ontario. This means at your visit, you will not be asked to fill out an authorization for the Release of Personal Health Information as part of the Ontario Breast Screening Program (OBSP). Your information will automatically be submitted to Cancer Care Ontario as part of facilitating or improving the provision of healthcare. This change in practice has been reviewed and approved by the Information and Privacy Commissioner of Ontario.
How to make a referral
Hereditary cancer referral form
Hereditary cancer family history questionnaire
Please complete the Hereditary Cancer Referral Form and mail or fax to:
Regional Genetics Program, CHEO
401 Smyth Road
Ottawa, ON K1H 8L1
Fax: 613-738-4822
Important information to include in your referral:
- Physician’s full name and phone number
- Physician’s number
- Patient’s name, address, and phone number
- Relevant family history (i.e. who is affected, exactly how they are related to the patient).
- Appropriate medical records (i.e., pathology reports, test results) of the patient and/or affected relatives.
We accept referrals from any physician or through the OBSP.
Send an eReferral
Did you know pediatricians and family doctors can register for EpicCare Link to send an eReferral to CHEO?
Learn more and register.
Eligibility criteria for referrals
Expedited genetic testing (breast cancer) |
A patient must meet the current provincial guidelines for offering mutation analysis of BRCA1 and BRCA2 and must meet either of the following criteria: 1) Patient is currently receiving treatment for breast cancer. Expedited testing would allow the patient and her doctor the option of proceeding with prophylactic mastectomy, instead of radiation therapy, if she is found to carry a BRCA1 or BRCA2 mutation. If mastectomy is chosen, the patient can avoid unnecessary radiation and have the full range of options for reconstructive surgery. And, the patient’s surgery or radiation therapy is to begin no sooner than 8 weeks from the date of blood draw, and before the results are expected, based on the current TAT for testing in the province. Please note: this criterion excludes elective reconstruction and/or prophylactic surgery 2) Patient requires surgery for other urgent medical reasons (eg. A hysterectomy for uterine bleeding causing anemia) and may use the information to alter surgical decisions (eg. salpingo-oophorectomy to be done with hysterectomy). And, the patient’s surgery is to take place no sooner than eight weeks from the date of blood draw, and before the results are expected, based on the current TAT for testing in the province. Please note: this does not include unaffected patients who want to make a decision about prophylactic surgery only. |
Genetic counselling for hereditary breast or ovarian cancer
Risk factors for inherited breast or ovarian cancer |
Please note: Ovarian cancer includes cancer of the fallopian tubes and primary peritoneal cancer. |
Provincial genetic testing criteria
Testing for affected individuals with breast or ovarian cancer |
At least one case of cancer:
At least two cases of cancer on the same side of the family with:
At least three cases of cancer on the same side of the family:
Testing for unaffected individuals (should only be done if affected individuals are unavailable, eg. deceased)
Note: testing limited to ethnic specific mutations, unless other criteria given in this list are met. |
Genetic counselling for hereditary colorectal cancer
Risk factors for genetic susceptibility to colon cancer |
Multiple cases in the family of the following cancers related to the hereditary non-polyposis colorectal cancer (HNPCC) spectrum, with at least one relative affected with colorectal or endometrial cancer. Age of onset less than 50 years, in closely related relatives and in more than one generation, would raise the index of suspicion.
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Ministry risk categories for genetic susceptibility to colon cancer |
If a tumour sample is unavailable, germline testing may proceed on the youngest living, affected individuals from families meeting the first two criteria’s only.
a. Three affected relatives with any combination of colorectal, endometrial, small bowel, ureter, transitional cell kidney cancer (urothelial), sebaceous adenoma/carcinoma and or keratoacanthoma. One should be a first degree relative of the other two. At least two successive generations should be affected/ At least one diagnosis must be made before the age of 50. FAP should be excluded. Tumours should be verified by pathological examination.
Testing for familial adenomatous polyposis (FAP):
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Cancer genetic counselling appointments
What is genetic counselling? |
Genetic counselling is a session with a Genetic Counsellor and/or a Physician specifically trained in Clinical Genetics. It is a way to learn whether the cancers in your family are likely to be inherited. Genetic counselling helps you to understand the differences between “sporadic” cancers (which occur by chance) and “hereditary” cancers, and to understand your personal risk of developing cancer. |
Who will I be meeting with? |
You will meet with a Genetic Counsellor and/or a Physician specifically trained in Clinical Genetics. A Genetic Counsellor is a health care professional with specialized training and experience in the areas of medical genetics and counselling. |
What will happen at my genetic counselling appointment? |
Medical information about you and your family will be reviewed, using the family history questionnaire you completed ahead of time. We will give you information about your cancer risk and your options for cancer screening. Your appointment may be a group information session with other individuals who have a family history of cancer. Or your appointment may be a one-on-one session. If you receive an appointment for a group information session, a genetic counsellor will be available to answer questions if needed. |
What is genetic testing? |
Genetic testing can be done on a blood sample with the goal of identifying a gene alteration (change) that is known to increase cancer risk. |
Will I have genetic testing? |
Not necessarily. Only a minority of individuals who come for genetic counselling are offered testing. During your appointment, the physician or genetic counsellor will talk with you about whether you or a family member is a candidate for genetic testing. If it is offered, genetic testing is voluntary and there are pros and cons that will be discussed with you. Most individuals attending a group information session are unlikely to have genetic testing. |
What is the importance of cancer risk assessments? |
A risk assessment may change your options for screening or preventative measures (such as medication or surgery) to lower cancer risk. |
How long will I be there? |
Appointments usually last one tot wo hours, which gives you plently of time to ask the physician or genetic counsellor questions. Please bring your health card and arrive 20 minutes before your appointment so that registration can be completed first. |
What if I need to cancel my appointment? |
Please call the Genetics Clinic as soon as you know that you will need to cancel or reschedule. Because the Inherited Cancer Program has a long waiting list of appointments, we try to schedule someone else during your appointment. Please help us make the best use of health care resources by notifying us as early as possible if you need to reschedule. |
Hereditary breast cancer, ovarian cancer and Lynch Syndrome
Genetics |
Hereditary cancer is typically suspected in families when several members of more than one generation develop cancer, and these cancers are diagnosed at a relatively young age (less than 50). Hereditary cancer is also suspected if a particular type of cancer, or a recognizable pattern of cancers, cluster in a family. About 5-10% of all cancer cases are thought to be due to an inherited gene mutation. Therefore, most cancer is not hereditary. Hereditary breast and ovarian cancer syndromes are associated with mutations in one of two genes, BRCA1 and BRCA2. Approximately 20-30% of families that are suggestive of a hereditary breast and ovarian cancer syndrome will test positive for a mutation in BRCA1 or BRCA2. However, there may be other genes that predispose to breast cancer. |
Genetics testing |
If your family and/or personal history of cancer suggests that an inherited mutation may be involved, the possibility of genetic testing will be discussed during your genetic counseling appointment. Due to the complexities of genetic testing, it is most useful to begin testing on a family member who has been diagnosed with breast or ovarian cancer. Genetic test results can take many months to obtain. There are three possible results from initial testing for a BRCA1 or BRCA2 mutation: No Mutation Detected: A gene change in BRCA1 or BRCA2 has not been identified. This does not rule out a hereditary cancer predisposition. It is still possible that the individual carries a mutation that the testing cannot detect or a mutation in another, as yet undiscovered, cancer predisposition gene. Screening and management decisions should be based on family history and other personal risk factors. Uncertain Variant: A gene change that has not been well described. Additional studies would be required to determine whether this gene change is part of normal gene variation or is a mutation which increases cancer risk. |
Inheritance of BRCA1 or BRCA2 mutations |
We have two copies of every gene in our body, one from our mother and the other from our father. Having one nonworking copy of a BRCA1 or BRCA2 gene is enough to increase one’s predisposition to cancer. When an individual (male or female) has a BRCA1 or BRCA2 mutation, he/she has a 50% chance of passing it on to each child. This is known as autosomal dominant inheritance. |
Screening |
All women can consider monthly breast self-exams and have clinical breast exams annually by their physician. Annual mammograms beginning at age 40, or 10 years before the earliest diagnosis of breast cancer in the family, are recommended. Women with ≥ 25% lifetime risk for developing breast cancer are also eligible for MRI (where available). Screening recommendations may change over time as our knowledge of breast cancer increases. Personalized screening recommendations will be provided as part of your genetic counselling appointment. Ovarian cancer screening is not routinely recommended. The available screening methods have not been proven to reliably detect ovarian cancer at an early stage. All women should be aware of the symptoms of ovarian cancer and should approach their doctor promptly if they have any unusual abdominal, gynecological or urinary symptoms. |
Lifetime risks associated with BRCA1 and BRCA2 mutations |
Women Men Men and women who carry a BRCA1 or BRCA2 mutation may have a slightly increased risk for other cancers as well, such as melanoma, gallbladder/bile duct, pancreatic, gastrointestinal and hematologic cancers. The exact risk figures have not yet been calculated. |
Lynch Syndrome
Genetics |
Hereditary cancer is typically suspected in families when several members over multiple generations develop cancer, often at a relatively young age (less than 50). Hereditary cancer is Lynch syndrome (previously known as Hereditary Non-Polyposis Colorectal Cancer - HNPCC) |
Inheritance |
We have two copies of every gene in our body, one from our mother and the other from our father. Having one non-working copy of a Lynch syndrome gene is enough to increase the risk of developing cancer. When an individual has a Lynch syndrome mutation they have a 50% chance of passing the mutation on to each of their children. This is known as autosomal dominant inheritance. |
Cancer risk up to age 70 years in individuals with Lynch Syndrome |
(insert table in accessible format) Men and women who carry a Lynch syndrome mutation have a smaller (<10%) increased risk for other cancers such as urinary tract, small bowel, pancreas, hepatobiliary tract brain and specific types of skin cancer. MLH1 and MSH2 gene changes are the most common cause of LS. Cancer risks differ between mutation types, men and women and within and between families |
Genetic testing |
Due to the complexities of genetic testing, it is most useful to begin testing on a family member who has been diagnosed with colorectal cancer. For the first part of Lynch Syndrome testing, screening tests are performed on a tumor sample. Mutation Detected: A gene change (mutation) known to increase cancer risk has been identified. This likely explains the family history of cancer. Genetic testing for this mutation would be available to other family members. No Mutation Detected: A gene change in the specific Lynch Syndrome gene tested has not been identified. This does not rule out a hereditary cancer predisposition. It is still possible that the individual carries a mutation that the testing cannot detect or in another cancer predisposition gene. Screening and management decisions should be based on family history and other personal risk factors. Uncertain variant: Testing identified a gene change, but the significance of the change has not yet been determined. Additional studies by researchers would be required to determine whether this gene change is part of normal gene variation or is a mutation which increases cancer risk. |
Screening |
Everyone in the general population should have screening for colon cancer starting at age 50. Those with a family history of colorectal cancer may be recommended for more frequent screening beginning at an earlier age. Specific recommendations for you and your family will be discussed during your genetics appointment. |