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Last Update: 10/22/2013


Colorectal Cancer Syndromes

Adenomatous Polyposis Syndromes

A. Familial Adenomatous Polyposis (FAP)

This syndrome is an autosomal dominant disease that accounts for less than 1% of all colorectal cancers. Affected patients, if not treated, have a colorectal cancer risk of almost 100%, at a mean age of 39. Read more…

B. Attenuated Familial Polyposis (AFAP)

AFAP-affected patients develop a much lower number of polyps, commonly less than 100. The risk of cancer development is very high, but under 100%. Polyps and cancer appear 10 to 15 years later, on average, than in FAP (usually when the patient is in their early 30’s). Read more…

C. MYH-associated Polyposis Syndrome (MAP)

Recently, the base-excision repair gene MYH has been identified as responsible for an autosomal recessive inherited syndrome associated with multiple adenomas and carcinoma. This constitutes a new paradigm in hereditary colorectal cancer, provided the other colorectal cancer syndromes have an autosomal dominant pattern of inheritance. The syndrome has been called MAP for MYH-associated polyposis syndrome. Read more…

Hamartomatous Polyposis Syndromes

A. Juvenile Polyposis Syndrome (JPS)

This syndrome affects approximately 1 in 100,000 people. At least one third of them have a family history of the disease, but approximately 25% are de novo mutations. Read more…

B. Cowden's Syndrome

Cowden's syndrome affects 1 in 200,000 patients and the hamartomatous polyps arise commonly from ectodermal and/or endodermal elements. The most important hamartomas include fibrocystic disease of the breast, thyroid goiters or adenomas, multiple polyposis of the gastrointestinal tract, and ovarian cysts. Read More…

C. Peutz-Jeghers Syndrome (PJS)

PJS occurs in an estimated 1 in 10,000 to 1 in 100,000 patients, but there is a highly variable penetrance even within family members. Patients with PJS present typical freckling mucocutaneous hyperpigmentation in lips, buccal mucosa, vulva, fingers, and toes. Read more…

Non-Polyposis Syndromes

A. Lynch Sydrome

Lynch syndrome is the most common form of hereditary colon cancer. This autosomal dominant disorder accounts for 2 to 3 percent of all colorectal cancers. Penetrance reaches up to 80%. Read more…

B. Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

When mismatch repair gene mutations were first identified as the cause of non-polyposis hereditary colorectal cancers (HNPCC), it was thought that they would be responsible for the great majority of cases fulfilling clinical criteria of HNPCC. The reality is more complex. Read more…

Common Familial Colon Cancer

All Mendelian colorectal cancer predisposition syndromes described so far represent just » 5% of the total number of colorectal cancers. Between15-20% of patients with colorectal cancer present familial aggregation. Read more…

We provide comprehensive state-of-the-art care for all members of families that have a high risk for developing gastrointestinal or other types of related cancers because of an inherited predisposition.

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