Familial adenomatous polyposis

Common Name(s)

Familial adenomatous polyposis, FAP, Adenomatous polyposis coli

Familial adenomatous polyposis (FAP) is a genetic condition that causes growths of tissue (polyps) to develop in the large intestine (colon) and rectum. If these polyps are not removed, the polyps will become cancerous with time. There are three forms of FAP: classic, attenuated (milder), and autosomal recessive FAP. In the classic form, a person can have thousands of polyps and usually develops colon cancer in their 30s. In attenuated FAP, colon cancer usually does not develop until a person is in their 50s. In autosomal recessive FAP, a person usually develops less than 100 polyps. In addition to polyps and colon cancer, FAP can also cause noncancerous growths in the intestines (desmoid tumors) as well as cancerous and noncancerous growths in other parts of the body, including part of the small intestine (duodenum), stomach, bones, and skin.

Both classic and attenuated FAP are caused by a change (mutation) in the APC gene, while autosomal recessive FAP is caused by mutations in the MUTYH gene. The APC and MUTYH genes help to keep cell growth under control. Mutations in these genes can cause uncontrolled cell growth, leading to polyp formation in the colon and rectum. FAP caused by mutations in the APC gene is inherited in an autosomal dominant manner, which means a mutation in only one of the two copies a person has is enough to cause the condition. FAP caused by mutations in the MUTYH gene is inherited in an autosomal recessive manner, which means a mutation in both copies of the gene a person has is needed to cause the condition.

FAP is considered as a possible diagnosis in a person with multiple polyps in their colon. The diagnosis can be officially confirmed with genetic testing. Treatments include removal of the polyps and removal of the colon. If you or your child has been diagnosed with FAP, talk to a doctor about all treatment options. Support groups are also available to connect with others who are affected by FAP.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial adenomatous polyposis" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial adenomatous polyposis" returned 367 free, full-text research articles on human participants. First 3 results:

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format.
 

Author(s): Tomoaki Kahyo, Haruhiko Sugimura

Journal:

 

The quantitative analysis of human genetic variation is crucial for understanding the molecular characteristics of serious medical conditions, such as tumors. Because digital polymerase chain reactions (PCR) enable the precise quantification of DNA copy number variants, they are becoming ...

Last Updated: 31 Dec 1969

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Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients.
 

Author(s): Danielle C Sample, N Jewel Samadder, Lisa M Pappas, Kenneth M Boucher, Wade S Samowitz, Therese Berry, Michelle Westover, Deepika Nathan, Priyanka Kanth, Kathryn R Byrne, Randall W Burt, Deborah W Neklason

Journal:

 

Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to ...

Last Updated: 31 Dec 1969

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Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis.
 

Author(s): Mara Fornasarig, Raffaella Magris, Valli De Re, Ettore Bidoli, Vincenzo Canzonieri, Stefania Maiero, Alessandra Viel, Renato Cannizzaro

Journal:

 

Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial adenomatous polyposis" returned 34 free, full-text review articles on human participants. First 3 results:

Familial adenomatous polyposis syndrome with colorectal cancer in two Nigerians: a report of two cases and review of literature.
 

Author(s): Matthew Olumuyiwa Bojuwoye, Abdulfatai Bamidele Olokoba, Olumuyiwa Ayotunde Ogunlaja, Sulaiman Olayide Agodirin, Olatunde Kazeem Ibrahim, Kenechukwu Chukwuemeka Okonkwo, Aminu Mansa Aliyu

Journal:

 

Familial adenomatous polyposis syndrome is a rare condition characterized by the presence of numerous adenomatous polyps in the gastrointestinal tract and associated with risk for colorectal cancer. The disease is scarcely reported in Nigeria and this is the index report in Ilorin. ...

Last Updated: 31 Dec 1969

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Ex vivo resection and intestinal autotransplantation for a large mesenteric desmoid tumor secondary to familial adenomatous polyposis: A case report and literature review.
 

Author(s): Chao Cheng, Shuang Guo, Dakinah Eastman G B Kollie, Wanli Zhang, Jun Xiao, Jun Liu, Xiaoming Lu, Yong Xiao

Journal: Medicine (Baltimore). 2018 May;97(20):e10762.

 

The mesenteric desmoid tumor requires special attention and the most demanding treatment.

Last Updated: 31 Dec 1969

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A distinct variant of papillary thyroid carcinoma indicating familial adenomatous polyposis (FAP): a case report and brief review.
 

Author(s): Nishantha Liyanapathirana, Sanjeewa Anuruddha Seneviratne, Dharmabandhu Nandadeva Samarasekera

Journal:

 

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome with an incidence of about 1/8300 births and accounts for about 1% of all colorectal cancers. It has a spectrum of extra-intestinal manifestations including thyroid carcinoma which ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cold Snare Polypectomy for Duodenal Adenomas in Familial Adenomatous Polyposis
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 28 Mar 2018

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Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program
 

Status: Recruiting

Condition Summary: Attenuated Familial Adenomatous Polyposis; Deleterious Familial Adenomatous Polyposis

 

Last Updated: 12 Jan 2018

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Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer
 

Status: Recruiting

Condition Summary: APC Gene Mutation; Attenuated Familial Adenomatous Polyposis; Familial Adenomatous Polyposis

 

Last Updated: 16 Jul 2018

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