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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 363 free, full-text research articles on human participants. First 3 results:

Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria.
 

Author(s): Christine M Dejea, Payam Fathi, John M Craig, Annemarie Boleij, Rahwa Taddese, Abby L Geis, Xinqun Wu, Christina E DeStefano Shields, Elizabeth M Hechenbleikner, David L Huso, Robert A Anders, Francis M Giardiello, Elizabeth C Wick, Hao Wang, Shaoguang Wu, Drew M Pardoll, Franck Housseau, Cynthia L Sears

Journal: Science. 2018 02;359(6375):592-597.

 

Individuals with sporadic colorectal cancer (CRC) frequently harbor abnormalities in the composition of the gut microbiome; however, the microbiota associated with precancerous lesions in hereditary CRC remains largely unknown. We studied colonic mucosa of patients with familial adenomatous ...

Last Updated: 31 Dec 1969

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Coexistence of Peripheral Spondyloarthritis and Familial Adenomatous Polyposis: A Rare Case Report with Treatment Contradictions and Review of the Literature.
 

Author(s): Berna Urkmez, Muge Kepekci, Sevde Ozer Posul, Aylin Rezvani

Journal: Ethiop J Health Sci. 2017 Jul;27(4):441-444.

 

The coexistence of familial adenomatous polyposis and spondyloarthritis is rarely defined in literature. The primary aim of this presentation is to report a development of peripheral arthritis in 3 years following colon surgery with the diagnosis of familial adenomatous polyposis ...

Last Updated: 31 Dec 1969

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WNT Inhibitory Activity of Malus Pumila miller cv Annurca and Malus domestica cv Limoncella Apple Extracts on Human Colon-Rectal Cells Carrying Familial Adenomatous Polyposis Mutations.
 

Author(s): Gennaro Riccio, Maria Maisto, Sara Bottone, Nadia Badolati, Giovanni Battista Rossi, Gian Carlo Tenore, Mariano Stornaiuolo, Ettore Novellino

Journal:

 

Inhibitors of the Wingless-related Integration site (WNT)/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP). This autosomal-dominant syndrome is caused by germline mutations in the gene coding ...

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 33 free, full-text review articles on human participants. First 3 results:

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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Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature.
 

Author(s): Nicola Carlomagno, Francesca Duraturo, Maria Candida, Marina De Rosa, Valeria Varone, Giuseppe Ciancia, Armando Calogero, Michele L Santangelo

Journal:

 

Splenoma or splenic hamartoma is a rare primary splenic tumor most often discovered radiologically and incidentally. Splenic hamartomas have a strong association with solid and hematological malignancies and, in rare cases, with tuberous sclerosis, but to the best of our knowledge ...

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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