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Health Information Genetics & Cancer - Other Colorectal Cancer Syndromes

Other Colorectal Cancer Syndromes

The following rare syndromes also increase the risk for colorectal cancer:

  • Turcot syndrome
    This is a rare disorder that includes colorectal polyposis, colon cancer, and brain tumors. Mutations in different genes have been found in individuals with this syndrome, including mutations in the APC, MLH1, and MSH2 genes. For this reason, Turcot syndrome is said to be genetically heterogeneous.

  • Peutz-Jeghers syndrome (PJS)
    Peutz-Jeghers syndrome is an autosomal dominant disorder that is associated with the following characteristics:

    • melanocytic macules (dark blue or brown moles)
      These moles can be located around and/or in the mouth including the lips, and around the eyes, nostrils, and anus. Dark moles may also appear on the fingers. The lesions may fade by adulthood.

    • multiple polyps in the gastrointestinal tract

    • increased risk of benign (noncancerous) tumors of the ovaries and testes

    • increased risk of cancers of the stomach, esophagus, breast, colon, and pancreas

Peutz-Jeghers syndrome is caused by mutations in a gene on chromosome 19 known as STK11, which functions as a tumor suppressor gene.

  • familial colorectal cancer (FCC)
    Up to 15 percent of colorectal cancer patients have family members with colorectal cancer, but do not have a known colorectal cancer syndrome such as familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC). Colon cancer in these families may appear to follow an autosomal dominant pattern of inheritance. As genetic research continues, genes may be identified to explain these family histories.

  • juvenile polyposis coli
    This rare, childhood-onset disease is an autosomal dominant disorder that results from mutations in various cancer susceptibility genes, including the SMAD4/DPC4 and BMPR1A genes. The condition is associated with the development of hamartomatous polyps (few to numerous) that can be present throughout the gastrointestinal tract. Other symptoms can include diarrhea, hemorrhage, and protein-losing enteropathy. Juvenile polyposis is associated with an increased chance for gastrointestinal and pancreatic cancers. Most patients appear to be sporadic cases (happening for the first time in a family). However, this may actually be the result of decreased penetrance (i.e., the causative gene mutation is present in one of the parents but the symptoms did not develop).

Colorectal Cancer Care at
Rush University Medical Center

At Rush, home of one of the most comprehensive cancer programs in the country, skilled teams of surgeons, medical oncologists, radiation oncologists, gastroenterologists, nurses, geneticists, dieticians and researchers work together, challenging convention, to tackle colorectal cancer. And when it comes to early detection, Rush is a pioneer in genetic counseling. By working closely with patients, colorectal cancer specialists at Rush gather family history data that will help identify family members at high and ultimately prevent the onset of colorectal cancer.

Click here for more information about colorectal cancer care at Rush.


Cancer Diagnosis and Treatment Programs at
Rush University Medical Center in Chicago

At Rush, we offer a range of standard and investigational therapies for the treatment of cancer. We have more than a dozen programs specializing in the treatment of specific cancers, including:

Rush cancer programs are approved by the Commission on Cancer of the American College of Surgeons. Only one in four hospitals that treat cancer receive this special approval.

Click here to visit the home page for Cancer Programs at Rush.

Cancer Screening and Prevention
Cancer screening and prevention are priorities at Rush. Through genetic testing, counseling and advanced techniques for early detection, Rush helps people with a strong history of breast, ovarian, colon and other cancers. And in our state-of-the-art mammography center, we have one of the city’s finest teams of radiologists dedicated to early detection of breast cancer.

Cancer Support Programs at Rush
Cancer is not only a physical ordeal, it is also an emotional one, affecting cancer patients, their family and friends. To help address the whole person, we offer a number of resources to help patients and their loved ones cope in this difficult time.

For information on the cancer support programs at Rush click here.

Clinical Trials
Rush offers a number of clinical trials of experimental cancer treatments. Use the links below to search for studies for a particular form of cancer. If you are interested in exploring your eligibility for one of our open trials, please call (312) 942-8312. If we do not list trials for a particular type of cancer, please feel free to call us to discuss other treatment options.

For information on cancer clinical trial programs at Rush click here.

Find a Specialist at Rush
To find a cancer specialist at Rush, click on one of the following links:

To find specialist at Rush in other cancer-related areas, click on one of the following links:

Or make an appointment with a doctor at Rush by calling our toll-free physician referral number:

  • (888) 352-RUSH.

To reach the hospital operator, call (312) 942-5000. If you have difficulty hearing, call (312) 942-2207 (TTY/TTD).

Click here to view the
Online Resources page of this Web.

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Genetics & Cancer
Genetics & Cancer - The Genetics of Colorectal Cancer
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Genetics & Cancer - Other Colorectal Cancer Syndromes
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