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

Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.
 

Author(s): Mamunur Rashid, Andrej Fischer, Cathy H Wilson, Jessamy Tiffen, Alistair G Rust, Philip Stevens, Shelley Idziaszczyk, Julie Maynard, Geraint T Williams, Ville Mustonen, Julian R Sampson, David J Adams

Journal: J. Pathol.. 2016 Jan;238(1):98-108.

 

Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are inherited disorders associated with multiple colorectal adenomas that lead to a very high risk of colorectal cancer. The somatic mutations that drive adenoma development in these conditions have not been ...

Last Updated: 15 Jan 2016

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A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
 

Author(s): Shan-Shan Jiang, Jian-Jun Li, Yin Li, Long-Jun He, Qi-Jing Wang, D Sheng Weng, Ke Pan, Qing Liu, Jing-Jing Zhao, Qiu-Zhong Pan, Xiao-Fei Zhang, Yan Tang, Chang-Long Chen, Hong-Xia Zhang, Guo-Liang Xu, Yi-Xin Zeng, Jian-Chuan Xia

Journal: Oncotarget. 2015 Sep;6(29):27267-74.

 

Familial adenomatous polyposis (FAP) is an autosomal dominant disease manifesting as colorectal cancer in middle-aged patients. Mutations of the adenomatous polyposis coli (APC) gene contribute to both FAP and sporadic or familial colorectal carcinogenesis. Here we describe the identification ...

Last Updated: 9 Oct 2015

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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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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:

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: 21 Jul 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 21 Apr 2016

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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: 10 May 2016

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