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

Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.
 

Author(s): Voytek Slowik, Thomas Attard, Hongying Dai, Raj Shah, Seth Septer

Journal:

 

Desmoid tumors are a group of benign, invasive, solid tumors that are relatively rare in the general population, but can occur in up to 21 % of patients with Familial Adenomatous Polyposis (FAP). They can be difficult to treat and have high rates of recurrence even after resection. ...

Last Updated: 16 Jul 2015

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Solid pseudopapillary neoplasm of the pancreas associated with familial adenomatous polyposis.
 

Author(s): Tadahisa Inoue, Yuji Nishi, Fumihiro Okumura, Takashi Mizushima, Hirotada Nishie, Hiroyasu Iwasaki, Kaiki Anbe, Takanori Ozeki, Kenta Kachi, Shigeki Fukusada, Yuta Suzuki, Akira Mizuno, Masaki Kajikawa, Kazuko Watanabe, Hitoshi Sano

Journal: Intern. Med.. 2015 ;54(11):1349-55.

 

A man in his thirties visited our hospital for an evaluation of a 12×10-mm pancreatic solid tumor that was accidentally detected on computed tomography performed for follow-up of familial adenomatous polyposis (FAP). We diagnosed the patient with a solid pseudopapillary neoplasm ...

Last Updated: 1 Jun 2015

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Adenomas of the common bile duct in familial adenomatous polyposis.
 

Author(s): Mao-Lin Yan, Jun-Yong Pan, Yan-Nan Bai, Zhi-De Lai, Zhong Chen, Yao-Dong Wang

Journal: World J. Gastroenterol.. 2015 Mar;21(10):3150-3.

 

Familial adenomatous polyposis (FAP) or Gardner's syndrome is often accompanied by adenomas of the stomach and duodenum. We experienced a case of adenomas of the common bile duct in a 40-year-old woman with FAP presenting with acute cholangitis. Only 8 cases of adenomas or adenocarcinoma ...

Last Updated: 17 Mar 2015

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

Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2014 Dec;18(101):331-9.

 

Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast ...

Last Updated: 31 Dec 2014

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Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.
 

Author(s): Fábio Guilherme Campos

Journal: World J. Gastroenterol.. 2014 Nov;20(44):16620-9.

 

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features ...

Last Updated: 3 Dec 2014

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Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis.
 

Author(s): Masahiro Tajika, Yasumasa Niwa, Vikram Bhatia, Tsutomu Tanaka, Makoto Ishihara, Kenji Yamao

Journal: World J. Gastroenterol.. 2013 Oct;19(40):6774-83.

 

Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch mucosa over time, and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence, nature, ...

Last Updated: 4 Nov 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP)
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 12 Jan 2016

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Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP)
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 3 Dec 2014

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Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP)
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 8 Feb 2016

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