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Hereditary Colorectal Cancer

THE ROLE OF GENETICS

This summary is intended for anyone wishing to learn more about hereditary colorectal cancer syndromes and genetic testing for these syndromes. This summary should help you understand: 

  • The definition of a syndrome and specific examples of hereditary colorectal cancer syndromes and their classification
  • How frequently these syndromes occur and how they are diagnosed/identified
  • The symptoms and signs of the diseases that may be associated with these syndromes
  • The benefits of genetic counseling and how best to determine whether genetic testing should be performed. 

WHAT ARE GENES?

Genes are made up of DNA. They are the basic units inside a cell by which we inherit traits from our ancestors and pass down traits to our children. Our genetic information, found in our DNA, determines much about us: for example, our eye and hair color. Genes can be associated with diseases, and cancer (of all types) is a disease associated with changes in our genes. A number of genes have been identified that lead to a particularly increased risk of developing cancer in the colon or rectum. 

DEFINITION OF HEREDITARY COLORECTAL CANCER SYNDROMES

Colon and rectal disease, like many fields in medicine, has seen an incredible increase over the last two decades in the amount of information available about genes and how changes to them may lead to cancer. Some of these abnormal genes, or gene mutations, that have been discovered may lead to a syndrome. A hereditary syndrome is defined as a group of symptoms or signs that occur together and characterize a disease process. 
Hereditary colorectal cancer syndromes are thought to account for up to 10% of all colorectal cancers, while another 20% of people will have a higher rate of colorectal cancer in their family without a clear hereditary syndrome being found. Not all colorectal cancer syndromes are yet linked to an identifiable abnormal gene or gene mutation. Therefore, hereditary colorectal cancer syndromes are often diagnosed by the symptoms and signs that they cause, which can be most easily divided or categorized into those with multiple colonic polyps and those without multiple polyps. 

NONPOLYPOSIS COLORECTAL CANCER SYNDROMES

Originally described by Dr. Henry Lynch in the early 1970s as the “family cancer syndrome,” this is the most common hereditary colorectal cancer syndrome, accounting for 3-6% of all colorectal cancers diagnosed in the United States. It is associated with high risk for colorectal and multiple other cancers. Originally known as Lynch Syndrome and now known as Hereditary Nonpolyposis Colorectal Cancer or HNPCC, this describes patients with a known gene mutation in one to four major DNA mismatch repair genes (MLH1, MSH2, MSH6, and/or PMS2) and/or patients who fit particular clinical criteria (Amsterdam II criteria or revised-Bethesda criteria, see Tables 1 and 2). Of note 40% of those patients who fit these clinical criteria will not have a gene mutation when tested. HNPCC shows an autosomal dominant inheritance pattern (50% chance of passing the abnormal gene on to a child), with a lifetime risk of developing colorectal cancer between 30-72%. 
Table 1:
Revised Amsterdam Criteria (Amsterdam Criteria II)
There should be at least three relatives with an HNPCC-associated cancer (cancer of the colorectum, endometrium, small bowel, ureter, or renal pelvis) and:
  • One should be a first-degree relative to the other two;
  • At least two successive generations should be affected;
  • At least one should be diagnosed before age 50;
  • Familial adenomatous polyposis should be excluded;
  • Tumors should be verified by pathological examination.
Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch Syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453-1456. [Abstract]

Table 2:
Revised Bethesda Guidelines
  • Individual with CRC diagnosed by age 50
  • Individual with synchronous or metachronous CRC, or other HNPCC-associated tumors regardless of age
  • Individual with CRC and MSI-H histology diagnosed by age 60
  • Individual with CRC and more than 1 FDR with an HNPCC-associated tumor, with one cancer diagnosed by age 50
  • Individual with CRC and more than 2 FDRs or SDRs with an HNPCC-associated tumor, regardless of age
Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Natl Cancer Inst. 2004; 96: 261-268. [Abstract]
 
On average, patients with this syndrome are diagnosed with colorectal cancer in their early to mid-40s though some studies show colorectal cancer risks increasing instead in the early 60s, depending on the gene mutation. The colorectal cancers in HNPCC occur on the right side of the colon 60-70% of the time and have high rates of multiple colorectal cancers (synchronous) appearing at the same time (5-20%) or developing new cancers in the future (10-50%) (metachronous). There is also a high association with other types of cancers, including those of the uterus (20-60%), stomach (13-19%), and ovary (9-12%), as well as less frequently involving the small intestines, bile ducts in the liver, brain, and urinary system (all <4%). It appears that there are different cancer rates and different types of cancers dependent upon which of the mismatch repair genes have the mutation. 

SCREENING

There are two well-accepted screening tests for HNPCC when someone has a cancer that is potentially related to the condition. These tests are done on tissue samples from the cancer, and either test is equally successful to help determine whether further genetic testing might be worthwhile. Testing is based on institutional preference and resource availability. Because the syndrome is so common, many centers routinely test all colorectal cancer biopsies for HNPCC. See below for further discussion of genetic testing for HNPCC. 
For patients with HNPCC, colonoscopy screening should start at age 20-25 years (or 10 years before the earliest colorectal cancer in the family) and should be performed every 1-2 years initially and then yearly after age 40. This has been shown to improve survival in patients with the syndrome due to early detection of cancer . 

TREATMENT AND SURVEILLANCE 

As with any other colon cancer, the operation is planned to remove the segment involving cancer with several inches of margin of normal colon on either side, in addition to removing the corresponding lymph nodes in the vicinity of the cancer. This is frequently done with a minimally invasive (laparoscopic or robotic) or otherwise open surgery. 
When a colon cancer is diagnosed in the setting of HNPCC, because of the high risk of developing a future second colorectal cancer, there should be a discussion with the surgeon and other specialists of the risks and benefits of a more extended removal of the colon rather than just the area with the cancer. One of the greatest concerns is how a more extended removal of the colon might impact their stool frequency, but this altered bowel function can be well-tolerated by most patients. 
Regardless of the amount of colon removed to treat colon cancer in the setting of HNPCC, the remaining colon and rectum need to be checked yearly with colonoscopy. If a rectal cancer develops, it may be recommended that all of the colon and rectum be removed versus just the part of the rectum involved with the cancer. These options can all be discussed with the surgeon. Screening and treatment for the other cancers associated with HNPCC will not be addressed in this review, but patients must consult with their physician to make sure appropriate tests are done.           
Consideration should also be given to a preventative removal of the colon in HNPCC, even without the presence of colon cancer. This is usually based on the very high risks of colorectal cancer noted in a particular family with the syndrome. It may also be considered in circumstances of excessive cancer fears in the patient or difficulties with being able to do appropriate colonoscopies or other tests to try to prevent cancer from developing (or catching it early if it does develop). High dose aspirin has been found in clinical trials to reduce the risk of colorectal cancer in people with Lynch syndrome/HNPCC.
 

SYNDROMES WITH MULTIPLE POLYPS (“POLYPOSIS”)

Familial Adenomatous Polyposis (FAP)
Definition:
While polyposis syndromes are relatively rare, the most common type is “FAP,” occurring in 1/5000 to 1/18000 people, and is characterized by having 100 or more polyps in the colon and rectum.  The polyps can be so extensive, in the 1000’s, so they appear to be carpeting the colon lining. 
The polyps found in this condition are a particular type known as “adenomas”, and thus the “adenomatous” term in the name of the condition. In general, adenomatous polyps have an increased risk of developing colorectal cancer. In FAP, especially with the very high numbers of polyps, this risk of colorectal cancer can be as high as 100% over a person’s lifetime. Without treatment, the average FAP patient will have colorectal cancer diagnosed by age 40 and up to 7% of the cancers will be diagnosed before age 21. The syndrome does have a 100% chance of developing polyps (i.e. if the patient has a gene mutation, they will develop polyps) with the polyps starting to develop on average around age 16. 
The mutation that most often leads to this condition is found in the APC gene, which is a gene important for suppressing the growth of tumors (called a tumor suppressor gene). If someone has a mutation in this gene, they have a 50% chance of passing the abnormal gene on to their child (this is known as autosomal dominant). 
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[File: Autosomal Dominant Pedigree Chart.svg]

However, in 20-30% of cases, FAP patients will have a spontaneous gene mutation – meaning that they are the first ones in their family to have the abnormal gene that leads to the condition. The variability in the number of polyps, ranging from 100 to 1000’s, has been associated with the location of the mutation in the APC gene. 
Diagnosis/surveillance:
Because the polyps start to form in the colons of patients with FAP at an early age, colonoscopy or sigmoidoscopy screening (using a lighted, flexible scope to examine the lining of the colon and rectum) should begin at age 10-12 in those patients with a known gene mutation or those who are at risk (family history) for having a mutation but have not yet undergone gene testing. These scopes should continue yearly until polyps are identified, thus confirming the diagnosis of FAP. Once a person within a high risk family has gene testing performed and shows a negative result, further high frequency colonoscopy screening is not required until the standard screening age of 45. A positive scope (i.e., presence of polyps) or genetic test result require continued colonoscopy and/or surgery for the colon and rectal polyps related to FAP. 
Associated symptoms:
Desmoid tumors are fibrous or scar-tissue-like tumors that can occur anywhere in the body. These can occur in 15-30% of FAP patients and can lead to significant and life-threatening problems, potentially by blocking or eroding into the bowel. These benign tumors can require surgery and/or medications when they become too large or cause significant symptoms. 
Gastric polyps can occur in 90% of FAP patients, in addition to duodenal polyps; thus routine upper endoscopies should be performed. Other serious conditions associated with FAP include polyps or cancers in other parts of the intestines and stomach, thyroid cancer, pancreas cancer, and even liver tumors in children. There are standard surveillance recommendations and it is important for FAP patients to consult with their surgeon or primary care giver about these tests. 
Treatment:
The primary treatment for FAP is surgery. Scopes, as mentioned above, sometimes offer a chance to remove some, if not all, of the polyps in the colon and rectum while the number is low, typically under 100.  This may initially help to minimize cancer developing in some FAP patients or allow for delaying surgery, but should not be viewed as a means of avoiding surgery altogether. Surgery is the mainstay of treatment. In a person with a low number of easily manageable polyps in the rectum, one option for surgery involves  removing all of the colon and connecting the small intestine to the rectum. Otherwise when all of the colon and rectum are heavily involved with polyps, the operation involves removing all of the colon and rectum with either a permanent ileostomy bag (no reconnection) or an internal J pouch to reconnect the bowel. 
When creating the permanent ileostomy, the end of the small intestine is brought  through the abdominal wall to create the ileostomy —the digestive contents drain into a bag, also called an appliance, which is adhered to the skin covering the ileostomy.  A J-pouch is a small intestine pouch internally that is connected to the anus (an “ileal pouch anal anastomosis” or “IPAA”, also commonly known as a “J-pouch”). Patients typically will have multiple (5-7) bowel movements a day. 
A colon and rectal surgeon can explain the details and risks and benefits of these procedures and help determine which FAP patients may be candidates for each procedure. In most cases these operations can be performed with a minimally invasive robotic or laparoscopic approach, or sometimes in a traditional “open” technique (with a longer incision on the abdomen), as is determined to be best by the patient and the surgeon.    

Selecting an appropriate surgical procedure for an FAP patient in addition to planning at what age to do a preventive operation depends on multiple factors:

  • the number of rectal polyps
  • the type of APC mutation
  • the presence of colon or rectal cancer at the time of the operation
  • the age of the patient–usually the operations are performed in the late teens or early twenties for those patients diagnosed early in life, assuming they are able to understand the risks and benefits of the surgery
  • family patterns of the polyps associated with the FAP
  • family experience with any of the surgery options
  • the patient’s willingness and ability to undergo future screening endoscopy to check any areas of remaining colon or rectum that may develop or have polyps
  • predisposition for or presence of desmoids
  • plans for future childbearing
  • the patient’s overall health and ability to control their bowels. 
  • the patient’s cancer fears

ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

The “attenuated” type of FAP (aFAP) has fewer polyps in the colon and rectum (between 10 and 100 polyps with the average patient having between 20-30 polyps). In many cases, this syndrome is associated with  a mutation in a particular location on the APC gene. 
The polyps in aFAP are more often found in the right side of the colon and are less often found in the rectum. Patients with aFAP tend to develop polyps at a later age (35-45 years old) than in FAP and develop their first colorectal cancer at a later age (55-59 years old) when compared to FAP. Because of the polyp locations in aFAP, sigmoidoscopy is not recommended to track the polyps because it may not reach to the area where most of the polyps will form. Instead, colonoscopy is recommended to begin at age 20-30, or ten years sooner than the first polyp has been diagnosed in the family, whichever is first. 
While disease-related problems outside of the colon and rectum are not as extensive or frequent, aFAP patients do frequently have upper intestinal polyps (in the stomach and small intestine) requiring surveillance. Because the colon polyps in aFAP may be manageable with removal during colonoscopy, prophylactic removal of the colon and/or rectum may not be necessary for all patients. Many patients who do undergo surgery may be able to keep the rectum due to fewer polyps being present and it is easier to surveil, and this type of surgery allows better bowel function. Polyp prevention with medications such as those used in FAP may be effective, but larger trials have not been done. The surgical options, indications and considerations are otherwise the same as with FAP. 

MUTYH-ASSOCIATED POLYPOSIS

MUTYH-ASSOCIATED POLYPOSIS (or “MAP”) is a syndrome caused by a mutation in the MutYH gene, which normally helps to repair damage to DNA. In MAP, the patient has to receive an abnormal MutYH gene from both their mother and their father (“autosomal recessive”) for the syndrome to develop. MAP patients usually have a clinical picture very similar to aFAP (between 10 and 100 colon and rectal polyps). but almost 20% of those patients who come to a doctor with more than 100 polyps actually are due to a MAP rather than aFAP. The condition usually starts when patients are in their 40s or 50s, and approximately 50% of those diagnosed with MAP will initially present with colorectal cancer. 
The colonic polyps found in MAP may be manageable without surgery at least initially, and colonoscopy is recommended to start by age 20-30 (or ten years earlier than the first family diagnosis, whichever is earlier) and continue yearly if needed. While not as common as with FAP and aFAP, small intestine polyps may be present, so at least an initial screening upper scope is also recommended. 

SERRATED POLYPOSIS SYNDROME 

Serrated polyposis syndrome is a hereditary colorectal cancer syndrome associated with a group of polyps that have specific histologic and genetic features, known as “sessile serrated polyps,” “sessile serrated adenomas,” and “hyperplastic polyps.” Serrated polyps are named based on their knife-blade or jagged appearance under the microscope.  This syndrome does not have a well-defined gene mutation associated with it, although it may be associated with mutations in a gene called BRAF or KRAS. The syndrome is thus defined based on the presence of at least 5 serrated-type polyps in the colon, 2 being larger than 10mm, or over 20 serrated lesions throughout the colon and rectum over 5 mm in size. The colorectal cancer risk with this syndrome is not exactly known, but it is elevated and estimated to be between 7-40%. 
Colonoscopy recommendations to track the polyps are on a case-by-case basis depending on the numbers and types of polyps, but it is thought best to start by age 40 (or ten years earlier than the youngest relative in the family diagnosed with the syndrome, whichever is earlier). As with the other polyposis conditions, surgery is recommended for serrated polyposis when the polyps cannot be sufficiently treated with the colonoscope, the polyps cause symptoms (like significant bleeding), or cancer or pre-cancerous changes develop in the polyps. A surgeon will help to determine the appropriate operation. 

HAMARTOMATOUS POLYPOSIS SYNDROMES

Hamartomatous polyposis syndromes  are very rare and have unique polyps called hamartomas, which are different from adenomas, and can be found in the small intestine, colon or rectum in varying degrees. Included in these syndromes is:
  • Peutz-Jeghers Syndrome caused by a mutation in the STK11/LKB1 gene (a tumor suppressor gene – which normally prevents cells from dividing in an uncontrolled fashion), with a colorectal cancer risk between 10-39%.
  •  Juvenile polyposis syndrome caused by a mutation in the SMAD4 or BMPR1A genes (genes involved in many cell functions), with a colorectal cancer risk between 10-50%. 
  • PTEN syndromes (including “Cowden syndrome” and “Bannayan-Riley-Ruvalcaba syndrome”) - associated with a mutation in the PTEN gene (a tumor suppressor gene) and have at least a 9% risk of colorectal cancer. 
All of these syndromes are associated with a variety of other cancers and other signs and symptoms. Colonoscopies for the hamartomatous polyposis syndromes should occur every 2-3 years starting in the patient’s teen years. Like many of the other polyposis syndromes, surgery is recommended for hamartomatous polyposis when the polyps cannot be sufficiently treated with the colonoscope, the polyps cause symptoms (like bowel blockage or significant bleeding), or cancer or pre-cancerous changes develop in the polyps. The surgeon will help to determine the appropriate operation. 

GENETIC TESTING AND COUNSELING FOR HEREDITARY COLORECTAL CANCER SYNDROMES

The 2022 National Comprehensive Cancer Network (NCCN) recommends multigene panel testing for those diagnosed with colon cancer under the age of 50, or for those with mismatch repair deficiency or family history of colon cancer. Genetic testing should be offered if results will aid in the patient’s diagnosis or help with the management of the patient and/or their family.  Adequate counseling, access to such testing, and appropriate follow up of results is paramount.  
Genetic counseling is defined as the “…process of helping people understand and adapt to the medical, psychological and familial implications of genetic conditions to disease” (National Society of Genetic Counselors' Definition Task Force). Counseling needs to be offered whenever genetic testing is being considered. This is especially true when considering genetic testing for hereditary colorectal cancer syndromes. These test results can be harder to understand than other genetic syndromes, because of the number of potential syndromes, the overlap in symptoms of the various syndromes, the number of genes that may need to be tested, and the frequent need to interpret other tests in addition to gene testing. 

The genetic counseling process should include: discussion of the purpose of the genetic test and information about the genes and who in the family to test; any alternatives to genetic testing; possible test results and how accurate the tests are; the likelihood of an abnormal result; any risks of discrimination based on the results (for example, it could affect someone’s ability to get insurance); psychological issues related to testing and how it may affect someone’s family; confidentiality issues; use of the gene test results to determine any future medical tests or procedures and, if available, preventative measures; and details of the storage and potential reuse of any genetic materials.
Tests, sample requirements (saliva vs blood), and reported results will vary among testing centers. Some test organizations may offer access to genetic counselors to assist in understanding any results. They could possibly make contact in the future when a new gene has been identified as being linked to the patient’s syndrome. It is best to discuss with your healthcare provider what the options are in terms of test results and how to understand the results once they come back. 

QUESTIONS TO ASK AND ANSWER:

  1. What is my risk for a hereditary colorectal cancer syndrome? 
  2. Are my cancer or polyps related to a hereditary colorectal cancer syndrome? 
  3. Are the cancers in my family related to a hereditary colorectal cancer syndrome? 
  4. Are there any other cancers or risks associated with having a hereditary colorectal cancer syndrome? 
  5. When should one have a first colonoscopy and how often should they be done? 
  6. Are there any other screening tests needed and how often should they be done? 
  7. When should a family start colorectal cancer and any other screening? 
  8. Should an individual or family have genetic counseling or be considered for genetic testing? 

WHAT IS A COLON AND RECTAL SURGEON?

Colon and rectal surgeons are experts in the surgical and non-surgical treatment of diseases of the colon, rectum and anus. They have completed advanced surgical training in the treatment of these diseases as well as full general surgical training. Board certified colon and rectal surgeons complete residencies in general surgery and colon and rectal surgery, and pass intensive examinations conducted by the American Board of Surgery and the American Board of Colon and Rectal Surgery. They are well-versed in the treatment of both benign and malignant diseases of the colon, rectum and anus and are able to perform routine screening examinations and surgically treat conditions if indicated to do so.

DISCLAIMER

The American Society of Colon and Rectal Surgeons is dedicated to ensuring high-quality patient care by advancing the science, prevention and management of disorders and diseases of the colon, rectum and anus. These brochures are inclusive but not prescriptive. Their purpose is to provide information on diseases and processes, rather than dictate a specific form of treatment. They are intended for the use of all practitioners, health care workers and patients who desire information about the management of the conditions addressed. It should be recognized that these brochures should not be deemed inclusive of all proper methods of care or exclusive of methods of care reasonably directed to obtain the same results. The ultimate judgment regarding the propriety of any specific procedure must be made by the physician in light of all the circumstances presented by the individual patient. 


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WHAT IS RECTAL PROLAPSE? Rectal prolapse is a condition in which the rectum (the last part of the large intestine before it exits the anus) loses its normal attachments inside the body, allowing it to telescope out through the anus, thereby turning it “inside out.” While thi...
WHAT IS RECTAL PROLAPSE? Rectal prolapse is a condition in which the rectum (the last part of the large intestine before it exits the anus) loses its normal attachments inside the body, allowing it to telescope out through the anus, thereby turning it “inside out.” While thi...
Irritable bowel syndrome (IBS) is a common disorder, affecting an estimated 15% of the population. It is one of the several conditions known as functional gastrointestinal disorders. This means the bowel may function abnormally, but tests are normal and there are no detec...
Irritable bowel syndrome (IBS) is a common disorder affecting over 15 percent of the population. The following information has been prepared to help patients and their families understand IBS, including the symptoms, causes, evaluation, and treatment options. IBS is one ...
A rectocele is a bulging of the front wall of the rectum into the back wall of the vagina that may interfere with emptying of stool from the rectum. The rectum is the bottom section of your colon (large intestine). The vagina and the rectum can be thought of as two muscular t...
  Pelvic floor dysfunction is a group of disorders that change the way people have bowel movements and sometimes cause pelvic pain. These disorders can be embarrassing to discuss, may be hard to diagnosis and often have a negative effect on quality of life.  This informa...
  OVERVIEW There are a variety of diseases and conditions of the colon and rectum for which surgery is recommended.  In addition to the decision to undergo surgery, patients are often faced with a choice of traditional or minimally invasive surgical techniques.  In orde...
WHAT IS HPV? The human papillomavirus (HPV) is a group of over 150 related viruses that cause the most common sexually transmitted infection (STI) in the world. These viruses cause anal and genital warts and have the potential to lead to precancerous changes to the affec...
THE ROLE OF GENETICS This summary is intended for anyone wishing to learn more about hereditary colorectal cancer syndromes and genetic testing for these syndromes. This summary should help you understand:  The definition of a syndrome and specific examples of heredita...
WHAT ARE ANAL WARTS? Anal warts are caused by HPV infection and are raised growths on the skin and inside of the anus. They can be small or large and cover significant areas of the skin and anal canal. They can be painless but can also cause itching, pain, bleeding, or disch...
Anal cancer is rare–much less common than cancer of the colon or rectum. The American Cancer Society estimates for anal cancer in the United States for 2024 are: About 10,540 new cases (3,360 in men and 7,180 in women) About 2,190 deaths (1,000 in menand 1,190 in women...