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Items: 6

1.

Attenuated FAP

A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP. [from NCI]

MedGen UID:
436213
Concept ID:
C2674616
Disease or Syndrome
2.

Brain tumor-polyposis syndrome 2

MedGen UID:
435873
Concept ID:
C2673218
Disease or Syndrome
3.

Familial adenomatous polyposis 1

APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome. FAP is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by a significant risk for colon cancer but fewer colonic polyps (average of 30), more proximally located polyps, and diagnosis of colon cancer at a later age; management may be substantially different. Gardner syndrome is characterized by colonic polyposis typical of FAP together with osteomas and soft tissue tumors. Turcot syndrome is the association of colonic polyposis and central nervous system (CNS) tumors. Differences in phenotype may relate to the location of the pathogenic variant within APC. [from GeneReviews]

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
4.

Adenomatous polyposis coli, attenuated

MedGen UID:
358117
Concept ID:
C1868019
Disease or Syndrome
5.

Familial multiple polyposis syndrome

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 Gardner syndrome.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 adenomatous polyposis.
[from GHR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
6.

Gardner syndrome

A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene. [from NCI]

MedGen UID:
6547
Concept ID:
C0017097
Disease or Syndrome
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