Muir-Torre syndrome

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What is the average age that individuals with Muir-Torre syndrome get diagnosed with colon cancer?

The average age of colon cancer in individuals with Muir-Torre syndrome is between 44-61 years old. However, not everyone with Muir-Torre syndrome will develop colon cancer.

References
  • http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
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What is the average age that individuals with Muir-Torre syndrome get diagnosed with uterine cancer?

What tumor testing is available for individuals with Muir-Torre syndrome?

What is the preparation for a colonoscopy for Muir-Torre syndrome?

How long does a colonoscopy take for Muir-Torre syndrome?

If I have an Muir-Torre syndrome, what are my options for having children?

Where can I go to get tested to see if I carry a MLH1 or MSH2 mutation for Muir-Torre syndrome?

What does the upper endoscopy screening consist of for Muir-Torre syndrome?

What is the average age that individuals with Muir-Torre syndrome get diagnosed with uterine cancer?

The average age of uterine cancer in individuals with Muir-Torre syndrome is between 48-62 years old. However, not everyone with Muir-Torre syndrome will develop uterine cancer.

References
  • http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
What tumor testing is available for individuals with Muir-Torre syndrome?

For Lynch syndrome/Muir-Torre syndrome there are typically two types of tumor tests that can be done. One is called microsatellite instability (MSI) testing. The microsatellite is a repeat of letters at the end of the gene, and there are supposed to be a certain number of repeats for the gene to function properly. Sometimes, there can be too many or too few repeats, and if this happens it is said to be MSI- high, which makes the doctors more suspicious that this may be Muir-Torre or Lynch syndrome. Another type of tumor test that can be done is called immunohistochemistry or IHC staining. This type of tumor testing is looking at the proteins. Genes give the body instructions for how to make proteins, and the IHC testing is looking to see if there are any proteins missing. If a protein is missing that may suggest that the gene that makes that protein may also be missing. IHC testing can give doctors and genetics health care providers an idea of which genes they should begin with for genetic testing.

References
  • Lynch, N.M, Burgart, L.J., Leontovich, O. et al. (2002). Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol; 20(4): 1043-1048.
What is the preparation for a colonoscopy for Muir-Torre syndrome?

You should discuss your specific prep recommendations with your doctor who will give you more specific and detailed instructions. The goal of the prep is to get your colon as clean as possible before the examination. In general, the prep consists of: drinking clear liquids only 24 hours before the exam, not eating solid foods, and drinking a large amount of a special cleansing solution and/or special oral laxatives recommended by your doctor.

References
  • MDanderson.org/patient-and-cancer-information/cancer-information/cancer-topics/prevention-and-screening/screening/colonoscopyprep.html
How long does a colonoscopy take for Muir-Torre syndrome?

The colonoscopy procedure depends on your case and your doctor. Your doctor can give you a better idea in your exact situation. The average procedure takes approximately 30 minutes, and you will be in the recovery room afterwards for another 30 minutes.

References
  • http://www.uchospitals.edu/specialties/colorectal/services/colectomy.html#primaryContent
If I have an Muir-Torre syndrome, what are my options for having children?

Each pregnancy or child of an individual with Muir-Torre syndrome will have a 50% chance of inheriting the same condition. If there is a concern about passing that genetic risk on, there are a couple options for family planning. One option is to adopt or use a sperm or egg donor instead of the genetic material from the parent with the condition. Another option is to have biological children, and know that there is a 50% risk that each child could inherit this mutation. A final option, if you know the gene change causing Muir-Torre syndrome in your family, is having in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Through the process of PGD, embryos can be checked to see if they contain the MLH1 or MSH2 mutation in the family or not, and only embryos that do not contain the mutation will be implanted in the mother.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1211/
Where can I go to get tested to see if I carry a MLH1 or MSH2 mutation for Muir-Torre syndrome?

To determine if you are someone who would be a good candidate for genetic testing, meeting with a genetics provider is recommended. You can find a genetic counselor near you at www.findageneticcounselor.org or www.cancer.gov/cancertopics/genetics/directory.

References
  • www.nsgc.org
  • www.cancer.gov/cancertopics/genetics/directory
What does the upper endoscopy screening consist of for Muir-Torre syndrome?

A gastroenterologist will use an endoscope (a small tubing that has a tiny camera attached to the end) to go down through the esophagus into the stomach and the first part of the small intestine. This is used to look for any polyps located in the small intestine, stomach, or esophagus.

References
  • Galiatsatos, P., & Foulkes, W. D. (2006). Muir-Torre syndrome. The American journal of gastroenterology, 101(2), 385-398.

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