Familial Adenomatous Polyposis
What is familial adenomatous polyposis?
Familial adenomatous polyposis (FAP) is an inherited disorder characterized
by cancer of the large intestine (colon) and rectum. People with the classic
type of familial adenomatous polyposis may begin to develop multiple
noncancerous (benign) growths (polyps) in the colon as early as their teenage
years. Unless the colon is removed, these polyps will become malignant
(cancerous). The average age at which an individual develops colon cancer in
classic familial adenomatous polyposis is 39 years. Some people have a variant
of the disorder, called attenuated familial adenomatous polyposis, in which
polyp growth is delayed. The average age of colorectal cancer onset for
attenuated familial adenomatous polyposis is 55 years.
In people with classic familial adenomatous polyposis, the number of polyps
increases with age, and hundreds to thousands of polyps can develop in the
colon. Also of particular significance are noncancerous growths called desmoid
tumors. These fibrous tumors usually occur in the tissue covering the intestines
and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur
after they are surgically removed. In both classic familial adenomatous
polyposis and its attenuated variant, benign and malignant tumors are sometimes
found in other places in the body, including the duodenum (a section of the
small intestine), stomach, bones, skin, and other tissues. People who have colon
polyps as well as growths outside the colon are sometimes described as having
A milder type of familial adenomatous polyposis, called autosomal recessive
familial adenomatous polyposis, has also been identified. People with the
autosomal recessive type of this disorder have fewer polyps than those with the
classic type. Fewer than 100 polyps typically develop, rather than hundreds or
thousands. The autosomal recessive type of this disorder is caused by mutations
in a different gene than the classic and attenuated types of familial
How common is familial adenomatous polyposis?
The reported incidence of familial adenomatous polyposis varies from 1 in
7,000 to 1 in 22,000 individuals.
What genes are related to familial adenomatous polyposis?
Mutations in the APC gene cause both classic and attenuated familial
adenomatous polyposis. These mutations affect the ability of the cell to
maintain normal growth and function. Cell overgrowth resulting from mutations in
the APC gene leads to the colon polyps seen in familial adenomatous polyposis.
Although most people with mutations in the APC gene will develop colorectal
cancer, the number of polyps and the time frame in which they become malignant
depend on the location of the mutation in the gene.
Mutations in the MUTYH gene cause autosomal recessive familial adenomatous
polyposis (also called MYH-associated polyposis). Mutations in this gene prevent
cells from correcting mistakes that are made when DNA is copied (DNA
replication) in preparation for cell division. As these mistakes build up in a
person's DNA, the likelihood of cell overgrowth increases, leading to colon
polyps and the possibility of colon cancer.
Read more about the
APC and MUTYH
How do people inherit familial adenomatous polyposis?
Familial adenomatous polyposis can have different inheritance patterns.
When familial adenomatous polyposis results from mutations in the APC gene, it
is inherited in an autosomal dominant pattern, which means one copy of the
altered gene in each cell is sufficient to cause the disorder. In most cases, an
affected person has one parent with the condition.
When familial adenomatous polyposis results from mutations in the MUTYH gene,
it is inherited in an autosomal recessive pattern, which means both copies of
the gene in each cell have mutations. Most often, the parents of an individual
with an autosomal recessive condition each carry one copy of the mutated gene,
but do not show signs and symptoms of the condition.
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