Inherited Colorectal Cancer Syndromes

Advanced care in Indiana for inherited colorectal cancer syndromes

Colorectal screenings are an important part of your preventive health routine. IU Health recommends colonoscopies every 10 years for individuals at average risk 50 years and older.

Some patients will need earlier colonoscopies if it is found that they have an inherited colorectal syndrome such as Lynch Syndrome or familial adenomatous polyposis (FAP).

One of the risk factors for colon cancer is your family history. Colon cancer is called "inherited" when there is a strong history of colorectal cancer or you are proven to carry a mutation. If you are concerned about your risk for colon cancer, please talk with your primary care provider.

Inherited colorectal cancer syndromes

The two most common inherited colorectal cancer syndromes are Lynch Syndrome and familial adenomatous polyposis (FAP). They can affect men and women, and the children of people who carry these genes have a 50% chance of inheriting the disease-causing gene. Patients diagnosed with one of these syndromes will need early and routine colonoscopies.

Lynch Syndrome

This colorectal cancer syndrome causes an increased risk of developing certain cancers, particularly colorectal cancer. Lynch is an autosomal dominant genetic mutation. This syndrome causes an increased risk of developing certain cancers including colorectal cancer. Due to their increased risk, people with Lynch syndrome should have routine colonoscopies starting at 20-25 years old.

Familial adenomatous polyposis (FAP)

This colorectal cancer syndrome is characterized by the development of hundreds to thousands of polyps in the colon. Over time, these polyps can develop into cancer if untreated.

Inherited syndrome that causes cancer of the colon. FAP is caused by an autosomal dominant genetic mutation. FAP is characterized by development of hundreds to thousands of polyps in the colon. Overtime, these polyps can develop in cancer if left untreated. Due to their increased risk for colorectal cancer, people with FAP need early and regular screening colonoscopies.

Serrated polyposis syndrome (SPS)

SPS is a condition of multiple serrated colon polyps. SPS is the most common polyp syndrome, affecting about 1 in every 250 adults. Serrated polyps appear flat and can be often overlooked during colonoscopy without understanding of these lesions and how to identify them properly. These polyps increase the risk of colorectal cancer.

Peutz-Jeghers Syndrome

Is an autosomal dominant genetic mutation. This syndrome is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract. Patient tend to also exhibit hyperpigmented (dark) macules (flat spots) on the lips and mouth. These polyps could turn into cancer if not removed by endoscopy or surgery.

MUTYH (MYH)-Associated Polyposis (MAP)

MAP is an autosomal recessive mutation that increases risk of colorectal cancer. In order for a person to be affected, both parents need to pass the MUTYH gene to their child. If only one copy of the gene is present, then the individual is a “carrier”. MAP is characterized by developing multiple polyps (usually 10-100) at younger age.

Understanding Inherited Colorectal Cancer Syndromes

One of the risk factors for colon cancer is your family history. Colon cancer is called "inherited" when there is a strong history of colorectal cancer or you are proven to carry a mutation. If you are concerned about your risk for colon cancer, please talk with your primary care provider.

Inherited colorectal cancer syndromes

The two most common inherited colorectal cancer syndromes are Lynch Syndrome and familial adenomatous polyposis (FAP). They can affect men and women, and the children of people who carry these genes have a 50% chance of inheriting the disease-causing gene. Patients diagnosed with one of these syndromes will need early and routine colonoscopies.

Lynch Syndrome

This colorectal cancer syndrome causes an increased risk of developing certain cancers, particularly colorectal cancer. Lynch is an autosomal dominant genetic mutation. This syndrome causes an increased risk of developing certain cancers including colorectal cancer. Due to their increased risk, people with Lynch syndrome should have routine colonoscopies starting at 20-25 years old.

Familial adenomatous polyposis (FAP)

This colorectal cancer syndrome is characterized by the development of hundreds to thousands of polyps in the colon. Over time, these polyps can develop into cancer if untreated.

Inherited syndrome that causes cancer of the colon. FAP is caused by an autosomal dominant genetic mutation. FAP is characterized by development of hundreds to thousands of polyps in the colon. Overtime, these polyps can develop in cancer if left untreated. Due to their increased risk for colorectal cancer, people with FAP need early and regular screening colonoscopies.

Serrated polyposis syndrome (SPS)

SPS is a condition of multiple serrated colon polyps. SPS is the most common polyp syndrome, affecting about 1 in every 250 adults. Serrated polyps appear flat and can be often overlooked during colonoscopy without understanding of these lesions and how to identify them properly. These polyps increase the risk of colorectal cancer.

Peutz-Jeghers Syndrome

Is an autosomal dominant genetic mutation. This syndrome is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract. Patient tend to also exhibit hyperpigmented (dark) macules (flat spots) on the lips and mouth. These polyps could turn into cancer if not removed by endoscopy or surgery.

MUTYH (MYH)-Associated Polyposis (MAP)

MAP is an autosomal recessive mutation that increases risk of colorectal cancer. In order for a person to be affected, both parents need to pass the MUTYH gene to their child. If only one copy of the gene is present, then the individual is a “carrier”. MAP is characterized by developing multiple polyps (usually 10-100) at younger age.

A colonoscopy is a generally painless procedure and is the best diagnostic tool to determine if you have polyps, pre-cancerous or cancer cells in your colon, or large intestine.

During a colonoscopy, you will receive anesthesia so you feel no discomfort or pain. Your physician will guide a thin tube with a camera through your colon to check for polyps or unusual growths. Your physician will remove polyps during colonoscopy and check for cancer cells.

Screening

A colonoscopy is a generally painless procedure and is the best diagnostic tool to determine if you have polyps, pre-cancerous or cancer cells in your colon, or large intestine.

During a colonoscopy, you will receive anesthesia so you feel no discomfort or pain. Your physician will guide a thin tube with a camera through your colon to check for polyps or unusual growths. Your physician will remove polyps during colonoscopy and check for cancer cells.

We identify genetic disorders in a variety of ways. Family history is a key to identifying potential risk. We review your family history to decide if we need to do genetic counseling or order more tests. These disorders are also identified in other ways:

  • If a patient has gastrointestinal symptoms
  • During a GI procedure such as a colonoscopy

Diagnosis

We identify genetic disorders in a variety of ways. Family history is a key to identifying potential risk. We review your family history to decide if we need to do genetic counseling or order more tests. These disorders are also identified in other ways:

  • If a patient has gastrointestinal symptoms
  • During a GI procedure such as a colonoscopy

At IU Health, we provide the latest care for complex situations. These include:

Large colorectal polyp resection

Large colorectal polyps have a greater risk of becoming cancer. Endoscopic resection via colonoscopy of the polyp is safer and less costly than surgery.

Resection program

Large polyps are technically challenging to remove endoscopically due to their size and shape. Choosing an experienced team improves outcomes for our patients.

Previous incomplete colonoscopy

Incomplete colonoscopies increase the risk of missed precancerous polyps and colorectal cancer. Repeat colonoscopy by an expert endoscopist can avoid radiologic testing and exposure and provide any necessary polyp removal in one procedure.

Treatment

At IU Health, we provide the latest care for complex situations. These include:

Large colorectal polyp resection

Large colorectal polyps have a greater risk of becoming cancer. Endoscopic resection via colonoscopy of the polyp is safer and less costly than surgery.

Resection program

Large polyps are technically challenging to remove endoscopically due to their size and shape. Choosing an experienced team improves outcomes for our patients.

Previous incomplete colonoscopy

Incomplete colonoscopies increase the risk of missed precancerous polyps and colorectal cancer. Repeat colonoscopy by an expert endoscopist can avoid radiologic testing and exposure and provide any necessary polyp removal in one procedure.

Patient Stories for Inherited Colorectal Cancer Syndromes