Frequently Asked Questions
Does my family history put me at higher risk for developing colorectal cancer?
Our criteria for including patients with HNPCC are: three family members, two of whom must be first-degree relatives, in two successive generations. These individuals must have colorectal cancer or colorectal cancer and a combination of gynecologic, genitourinary, or other gastrointestinal cancer.
Anyone diagnosed with colon cancer before the age of 35 or anyone diagnosed with colon cancer and one other HNPCC-related cancer, regardless of family history, is eligible. DNA testing will be offered to appropriate families who meet these criteria. A network of specialty services is available to patients and their families with hereditary colorectal cancer.
Both of my brothers had a polyp removed when they had their colonoscopies. My older brother was told he had a precancerous polyp. My younger brother was told he had the other kind of polyp which does not turn into cancer. What is the difference?
The word "polyp" is a general term similar to using "flower" to describe a group of plants. A polyp can be any abnormal growth. Using a microscope, the polyp biopsy is checked learn whether it is an overgrowth of normal tissue called hyperplastic. Hyperplastic or inflammatory polyps do not generally progress to cancer. If the growth is abnormal tissue or precancerous, it is called an adenoma. Most cancers arise from adenomas and adenomas need to be removed when they are found. If the growth is an abnormal mixture of tissue types, it is called a hamartoma. Hamartomas may occur in two different rare conditions, Peutz-Jeghers syndrome or Juvenile Polyposis.
I was told that I had an "early stage" cancer. How do the doctors know what stage a cancer is?
Colon cancer begins in the cells that line the inside of the colon. As the cancer grows, it invades deeper into the wall of the colon and can eventually pass through the full thickness of the colon. Cancer cells can spread or metastasize by invading blood vessels, involving lymph nodes near the colon or more distant organs, such as the liver or lungs. This information, along with the size of the cancer, is used, first, to decide the stage of the cancer; second, whether the patient needs chemotherapy or radiation; and third, whether the cancer is cured or may recur. A pathologist examines many sections from the tumour and the lymph nodes to find the stage. "Early stage" cancer means that the tumour removed after surgery has not invaded deeply into the colon, has not spread to other organs, and has been cured.
I just found out that I have FAP. Will I end up with a bag like my father?
Years ago, many people already had a cancer in the rectum when they were diagnosed. The entire rectum is rarely removed for FAP unless a large cancer is found in the rectum. Ask your doctor whether you have many adenomas in the rectum or whether they occur mostly in the colon. People often confuse the colon and rectum as one organ. The colon is removed for FAP and the rectum is treated according to the number and stage of adenomas. Today, there are many more choices. For example, an internal pouch can be created out of the last part of the small intestine (see "What is the Treatment for FAP?"). Small incisions with special telescopes, cameras, and instruments are being used to remove the colon for eligible patients. This field is known as laparoscopic or minimal access surgery. Early diagnosis and treatment can help prevent cancer of the colon and rectum.
Why can't the doctors cut out the bad gene?
Each cell has a complete copy of our genetic information, the colour of our hair and eyes, the shape of our nose, whether we will develop a disease. The gene change which causes a gene not to work properly is called a mutation. This gene change is present in every cell of the body. Gene mutations predispose a person to the development of diseases like familial adenomatous polyposis, hereditary colon cancer, Peutz-Jeghers syndrome, juvenile polyposis, and some forms of pancreatic cancer. Gene therapy research is working toward replacing a non-working gene with a working gene in cells, particularly for diseases which affect the immune system. Science is moving forward as new studies offer hope to families affected with inherited colorectal disease but this is still very much in the research phase. Newly diagnosed patients will benefit more immediately from either medical or surgical treatment.
I have heard that positive genetic testing results can lead to life/health insurance discrimination. Is this true, and if so how can it be avoided?
Although we are uncertain about how many, or which insurance companies actually ask about genetic testing on their insurance applications, it is something to consider before proceeding with genetic testing. Insurance companies could potentially ask someone if they have ever had genetic testing, and the applicant would be obligated to answer. It is possible that insurance companies might consider someone who is a gene mutation carrier for one of the hereditary colorectal cancer syndromes as being high risk, and that person could possibly be denied insurance. In reality, knowing one's gene status can help that person prevent cancer, and probably save the insurance company money in the long run, but the insurance companies don't necessarily see it like that. To avoid possible discrimination, we suggest that people consider taking out life/health insurance before initiating the testing process.
I have heard of research studies looking at prevention for various types of cancers. Are there any such studies looking at prevention of colorectal cancer?
We are currently recruiting patients for an international chemoprevention study called CAPP2 (Concerted Action Polyp Prevention). The purpose of the study is to look at the effects of aspirin and resistant starch in reducing polyp growth.
Individuals who are eligible for the study are those who are known to carry an HNPCC gene mutation, or who are highly suspicious of having HNPCC. Participation in the study involves taking 2 tablets and adding 2 sachets of starch to your food every day for 2 years. If you or someone you know is interested in learning more, or possibly participating, please contact firstname.lastname@example.org.
I have a close relative who had colon cancer. I'm worried about my own risk; what can I do to minimize it?
Even if your family history of colorectal cancer does not fit referral criteria for genetic counselling, you might be at a slightly increased risk compared to that of the general population to develop colorectal cancer. You should speak to your family doctor about appropriate recommendations for screening by colonoscopy.
How do I tell my children about my disease?
Young children often act on a need-to-know level and so keeping it simple may work best. Answering questions as they come up with a short and direct explanation means that they do not have to process too much information at any one time. Talk to them about their feelings, especially if you notice that they are not sleeping well or having trouble in school. An open approach and a sense of humour help children take their cue that their world is still okay. Older children may need more facts and, again, timing and pacing are important.
There are excellent books available which talk about digestion, the body, family trees, and genes. Here is a small sample:
The Organ Wise Guys — How to be Smart from the Inside Out! M. Lombardo. Wellness Inc., 1996
I Know Where My Food Goes J. Maynard. Candlewick Press, 1998.
Everyone Poops. T. Gomi. Kane/Miller Book Publishers, 1993.
Jessica's X-Ray P. Zonta. Firefly Books, 2002.
Let's Talk About Being Afraid M. Johnston. The Rosen Publishing Group, 1998.
The Family Tree Detective A. Douglas. Greey de Pencier Books, 1999.
Ingenious Genes Microexplorers. P.A. Baeuerle, N. Landa. Barron's, 1997.
Cells Are Us Dr. F. Balkwill, M. Rolph, 1990.
I look just like my mother, and take after her in many ways. She has had colon cancer. Does that mean I’m likely to get it too?
Not necessarily. Half of our genes come from our mother, and half from our father. Our genetic make-up is therefore a unique combination of traits from each of our parents. Our genes determine what we look like, how we grow and develop, and also some diseases we might be susceptible to. However, if we take after one parent for a certain physical trait, like height or eye colour, we can not assume that we also take after them if other ways, such as predicting for which medical conditions we might be at risk. Except in families where there is a known hereditary cause for colorectal cancer, such as Familial Adenomatous Polyposis (FAP) or Hereditary Non-Polyposis Colorectal Cancer (HNPCC), cancer risk is probably determined by a combination things. Besides genetics, other factors that might contribute to cancer predisposition might be diet, lifestyle and environmental exposures. We still have a lot to learn about the causes for colorectal cancer, and cancer in general.
My family has been told that we are not eligible for genetic testing, but am I still at higher risk for colorectal cancer?
If you have a family history of colorectal cancer, then yes, your risk for colorectal cancer will likely be higher than the general population. Since colorectal cancer is a relatively common type of cancer, it is not unusual to have a family history of this disease. However, hereditary colorectal cancer affects only about 5-10 per cent of patients with colorectal cancer. So not all families affected by colorectal cancer will be at risk for hereditary cancer. Even when genetic testing is not indicated, we cannot ignore a family history of cancer. The risk for relatives depends on the number of family members with the disease, how closely they are related, and their ages of diagnoses. Anyone with any relative diagnosed with colorectal cancer should review the family history with their physician to discuss what screening recommendations are appropriate for them.
If my family is at risk for hereditary cancer, but we do not really wish to pursue genetic testing, is a genetic counselling appointment still available to us?
Yes. A genetic counselling appointment does not always require that a family will be eligible for, or interested in, genetic testing. Genetic counselling involves a discussion about the chance of hereditary cancer and the risks for cancer for family members. Most importantly, we can also discuss the appropriate clinical screening recommendations for family members (eg. who should have a colonoscopy, at what age should screening begin, and how often) based on the cancer diagnoses in the family. There is also discussion about other cancer types that the family could be at risk for. Often, families may have other questions or concerns about the family history and hereditary cancer and this would be a good opportunity to discuss.
I don’t like the prep before having a colonoscopy, and I have heard that there is a virtual colonoscopy. What is a virtual colonoscopy and how is it different from a regular colonoscopy?
A virtual colonoscopy is similar to a regular colonoscopy in that it is a screening tool used to look for bowel diseases, such as colorectal cancer. A virtual colonoscopy uses MRI or CT scans along with computers to produce images of your colon. Like a regular colonoscopy, a virtual colonoscopy still requires that you remove all the stool from your colon before the procedure. During a virtual colonoscopy a small tube is inserted into the rectum and the colon is inflated with air; this allows better visualization of the colon. A MRI or CT scan is then used to produce a series of pictures of the colon. These pictures are then processed by a computer to create the computer image of the colon. A virtual colonoscopy can be more comfortable for some people since a regular colonoscope is not used. However, a virtual colonoscopy does NOT allow the physician to take biopsies or remove any polyps. If polyps are found, you will have to return for a conventional colonoscopy. We consider colonoscopy the “gold standard” and recommend it as the preferred screening method.
My 12-year-old daughter suffered with crampy abdominal pain which landed her in hospital. She had emergency surgery to remove a polyp and part of her small bowel. The surgeon said she had an intussusception due to Peutz-Jeghers syndrome. Can you explain this?
A bowel polyp which twist and turns on itself can cause the bowel to become blocked, a problem which can develop quite rapidly and require immediate surgery. Peutz-Jeghers syndrome, or PJS, is rare, perhaps affecting 1 in 200,000 people PJS polyps called hamartomas are prone to intussusception. Years ago, patients might end up being operated many times and losing too much of their small bowel. Today, the emphasis is on preventing this through earlier detection and more thorough removal of polyps before they are too large. New technology such as capsule endoscopy (miniaturized camera); CT enteroclysis (water infused through tube into small bowel prior to a CT-scan); or MRI scan may help your daughter avoid acute-care situations such as this. Ask for a referral to a paediatric gastroenterologist who specializes in inherited polyposis syndromes or contact the Registry.
My son was born with a hole in the wall of his heart which was corrected surgically. Now 30 years old, he had rectal bleeding which led to a bowel examination and a diagnosis of juvenile polyposis. I thought “juvenile” described children, but he only had a heart problem when he was young. What is the connection?
Juvenile polyposis, or JP, may involve upwards of 5 polyps in the gastrointestinal tract and should not be confused with solitary juvenile polyps which may occur in early childhood, often in the rectum. JP may be associated with particular congenital (present from birth) problems involving the heart or malformations of the blood vessels. Early detection of these associated problems will improve the changes to diagnose JP. Due to your son’s previous heart surgery, antibiotics are required prior to medical procedures and his specialists should be informed as well.