IBD Research Unit

Polyposis Education Night

1. History of Polyposis
Speaker: Terri Berk

3. Psychosocial Aspects of FAP
Speaker: Dr. Tae Hart

Slides: link (PDF)

4. Your Surgical Questions Answered
Speaker: Dr. Zane Cohen 

Slides: link (PDF)

5. Patient Speaker
Speaker: Tom

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 Kara.Semotiuk@SinaiHealth.ca.

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.

Physician Referrals

Who should be referred to a genetics clinic for genetic counselling:

• Individuals from families with a known genetic mutation causing Lynch Syndrome, FAP or other GI related syndromes.

• Individuals with a clinical diagnosis of Peutz-Jeghers syndrome, juvenile polyposis, hereditary mixed polyposis, and their family members.

• Individuals with 10 or more adenomatous polyps verified by pathological examination and their close family members*

• Individuals from families with multiple cases of cancer related to HNPCC. These cancers include colorectal, endometrial, small bowel, ureter, kidney, stomach, ovarian, pancreatic, brain, hepatobiliary, sebaceous adenoma/carcinoma. There must be at least one relative with colorectal cancer or endometrial cancer.

• Individuals diagnosed with colorectal cancer before the age of 35 along with their close family members*

• Individuals with more than one primary HNPCC-related cancer diagnosis (including: colorectal, endometrial, small bowel, ureter, kidney, stomach, ovarian, pancreatic, brain, hepatobiliary, sebaceous adenoma/carcinoma) along with their close family members*

• Individuals from families with familial pancreatic cancer

• Individuals from families with hereditary gastric cancer:

  • three or more family members with gastric cancer, or

  • one family member with gastric cancer diagnosed under the age of 35, or

  • two siblings with early onset of gastric cancer (both under the age of 50)

*Close family member = brother, sister, parent, child, aunt, uncle, grandparent, niece or nephew.

Click here to download the Physician Referral Form

• Please print out the form and fax it back to us at 416-586-5924.

• * Adobe Acrobat Reader will be required to open the file

News and Events

9th Lynch Syndrome Education Night for families

who want to learn the latest on Lynch Syndrome formerly known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Date: Tuesday, June 13th, 2023

Place: Zoom Virtual Event

Many thanks to all who attended, you can view the entire event using the link below:
 

3rd Familial Polyposis Education Night, May 11, 2021

For families who want to learn the latest on FAP & MAP

Date: Tuesday, May 11, 2021

Place: Zoom Webinar
Time: 7:00 p.m. – 9:30 p.m.

8th Lynch Syndrome Education Night for families

who want to learn the latest on Lynch Syndrome formerly known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Date: Wednesday, September 25th, 2019

Place: Mount Sinai Hospital, 600 University Avenue, Toronto, 18^th Floor Auditorium 

For Videos and slides, click here

2nd Annual Polyposis Education Night, November 7, 2017

For families who want to learn the latest on FAP & MAP

Date: Tuesday, November 7, 2017

Place: Mount Sinai Hospital, 600 University Avenue, Toronto
18^th Floor Auditorium
Time: 7:00 p.m. – 9:30 p.m.
Refreshments at 6:45pm

To RSVP or for more information, please go to: http://zanecohencentre.com/event/polyposis

7th Annual Lynch Syndrome Education Night, November 1, 2017

For families who want to learn the latest on Lynch Syndrome formerly known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Date: Wednesday, November 1, 2017

Place: Mount Sinai Hospital, 600 University Avenue, Toronto
18^th Floor Auditorium
Time: 7:00 p.m. – 9:30 p.m.
Refreshments at 6:45pm

To RSVP or for more information, please go to: http://zanecohencentre.com/event/lynch

This event is sponsored by Ann McLaughlin and Joe Aiello.

Polyposis Education Night, September 24th, 2015

We were pleased to present the Polyposis Education Night on September 24th, 2015.   The evening was hosted by Dr. Zane Cohen, director, Zane Cohen Centre for Digestive Diseases. 

Evening highlights included informative talks on the following:

• The History of the Familial Polyposis Registry, from Terri Berk, who many of you remember as the former coordinator of the polyposis registry
• The Genetics of Familial Polyposis, from Kara Semotiuk & Laura Winter, Genetic Counsellors at the FGICR
• Psychosocial Aspects of Familial Polyposis, from Dr. Tae Hart, Clinical Psychologist and Researcher
• Surgery in Familial Polyposis, from Dr. Zane Cohen, Colorectal Surgeon and Director of the Zane Cohen Centre for Digestive Diseases and Co-Director of the FGICR
• Familial Polyposis: A Patient Perspective

Please find the links and videos to these talks here: Link

6th Lynch Syndrome Education Night, May 27th, 2015.

We were pleased to present the 6^th Lynch syndrome education night on May 27th, 2015.   The evening was hosted by Dr. Zane Cohen, director, Zane Cohen Centre for Digestive Diseases.  

The audience - the largest to date - heard the latest information about cancer research from Dr. Robert Gryfe. He has completed several studies on Lynch syndrome and will discuss the latest research on cancer risk, screening and prevention in Lynch syndrome.

Dr. Jeff Spodek is the Chief of Urology at the Rouge Valley Health System. He works at the Centenary site in Scarborough, Ontario.  He completed his medical training at the University of Western Ontario in 1998 and completed his fellowship training in Urology in 2003 at the University of Western Ontario.  He will be giving an overview on the types of urinary tract cancers seen in Lynch syndrome including kidney, ureter and bladder cancers.

Brent Mizzen is Director, Policy Development for the Canadian Life and Health Insurance Association (CLHIA). He is responsible for policy development and analysis on industry issues as well as responses to policy demands from government.  Brent will give us the background on insurance and genetic testing, how companies assess individuals for insurance policies, and what the industry's position is on genetic testing.

The event ended with a long question and answer discussion with our panel of experts dealing with everything from diet and nutrition to the risk of developing secondary cancers in LS patients with a previous diagnosis.

Feedback from the patients and their families noted that ‘knowledge is power’ and that there are ‘not many other information sources’ available.

Looking forward to future events, the consensus was summed up by a patient who wrote ‘thank you, you have helped my family enormously”.

Please find the links and videos to these talks here: Link

NEW IN FALL 2015: A Meeting for Families with Familial Polyposis

Further details to come

5th Lynch Syndrome Education Night, June 11th, 2013.

We were pleased to present the 5^th Lynch syndrome education night on June 11, 2013.   The evening was hosted by Dr. Zane Cohen, director, Zane Cohen Centre for Digestive Diseases.  

The audience - the largest to date - heard the latest information about cancer risk and screening from Dr. Robert Gryfe and Dr. Sarah Ferguson. They highlighted the differences between the Lynch syndrome genes (MSH2, MLH1, MSH6, PMS2 and EPCAM) on the type of cancer that develops and the risks associated.  

Jenna Albiani, PhD student, clinical psychology, taught us about the experience of parents with Lynch syndrome and gave great advice on talking to children about genetic testing. Kathryn Cosgrove shared her story about fighting cancer and having Lynch syndrome. Her session brought a very personal and moving perspective.

The event ended with a long question and answer discussion with our panel of experts dealing with everything from diet and nutrition to the risk of developing secondary cancers in LS patients with a previous diagnosis.

Feedback from the patients and their families noted that ‘knowledge is power’ and that there are ‘not many other information sources’ available.

Looking forward to future events, the consensus was summed up by a patient who wrote ‘thank you, you have helped my family enormously”.

Please find the links to these talks.

Dr. Robert Gryfe - Highlights from the latest research in Lynch syndrome

Slide Presentation

Dr. Sarah Ferguson - Gynecologic Cancer in Women with Lynch Syndrome

Slide Presentation

Jenna Albiani - The Next Generation: The Experience of Parents with Lynch Syndrome

Slide Presentation

Symposium on Hereditary Gastrointestinal Cancer, June 17th, 2011

June 17th, 2011

• To discuss tumour pathology in terms of identifying and managing Lynch Syndrome patients
• To describe screening and management for Lynch, non– Lynch Syndrome and gastric cancer patients
• Outline and evaluate current criteria to identify Lynch syndrome, MutYH–Associated Polyposis and Familial Adenomatous Polyposis
• The event will run from 9:30 am to 4:00 pm
• Lunch and light refreshments will be provided

To register online click here

Speakers

• Zane Cohen, MD, FRCSC
  Director, Zane Cohen Center for Digestive Diseases
  Chairman Division of General Surgery, Department
  of Surgery, University of Toronto; Professor
• Steven Gallinger, MSc, MD, FRCSC
  Co-Director, Zane Cohen Center for Digestive Diseases
  Head, Division of Hepatobiliary/Pancreatic
  Surgical Oncology, UHN; Professor, Department of
  Surgery, University of Toronto
• Aaron Pollett, MSc, MD, FRCPC
  Staff Pathologist, Mount Sinai Hospital; Assistant
  Professor, Department of Laboratory Medicine and
  Pathobiology, University of Toronto
• Eugene Hsieh, MD, FRCPC
  Assistant Professor, Department of Laboratory Medicine
  and Pathobiology, Faculty of Medicine, University
  of Toronto; Staff Pathologist Sunnybrook
  Health Sciences Centre; Women’s College Hospital
• Blaise Clarke, MD
  Staff Pathologist, Assistant Professor, Department
  of Laboratory Medicine and Pathobiology, The University
  Health Network, Toronto General Hospital
• Lea Velsher, MD, CM, FRCPC, FCCMG
  Clinical Geneticist, North York General Hospital
  Lecturer, Department of Laboratory Medicine, University
  of Toronto
• Robert Gryfe, MD, PhD, FRCSC
  Staff Surgeon, Department of Surgery, Mount Sinai
  Hospital, Princess Margaret Hospital; Assistant Professor,
  Department of Surgery, University of Toronto
• Carol Swallow, MD, FRCSC
  Head, Division of General Surgery, Mount Sinai Hospital;
  Staff Surgeon, Department of Surgical Oncology,
  UHN, Princess Margaret Hospital; Associate
  Professor, Department of Laboratory Medicine and
  Pathobiology, Professor Department of Surgery,
  University of Toronto
• Peter J. Ainsworth, BSc, MB, ChB, PhD, FRCPC
  Director, Molecular Diagnostic Lab London Health
  Sciences Centre
• Eva Tomiak, MD, FRCPC, FCCMG
  Clinical Geneticist, Inherited Cancer Programme,
  Department of Genetics, Children’s Hospital of
  Eastern Ontario; Assistant Professor, Department
  of Medicine, University of Ottawa