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

Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future.
 

Author(s): Jiří Cyrany

Journal: Acta Medica (Hradec Kralove). ;60(1):55-57.

 

Last Updated: 7 Jun 2017

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Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan.
 

Author(s): Tomoki Yamano, Michiko Hamanaka, Akihito Babaya, Kei Kimura, Masayoshi Kobayashi, Miki Fukumoto, Kiyoshi Tsukamoto, Masafumi Noda, Nagahide Matsubara, Naohiro Tomita, Kenichi Sugihara

Journal: Cancer Sci.. 2017 Feb;108(2):243-249.

 

Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and are associated with other malignancies. There is some heterogeneity in management strategies in Japan. We undertook a survey of management of hereditary CRC in ...

Last Updated: 21 Nov 2016

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Efficacy and safety of eflornithine (CPP-1X)/sulindac combination therapy versus each as monotherapy in patients with familial adenomatous polyposis (FAP): design and rationale of a randomized, double-blind, Phase III trial.
 

Author(s): Carol A Burke, Evelien Dekker, N Jewel Samadder, Elena Stoffel, Alfred Cohen

Journal:

 

Molecular studies suggest inhibition of colorectal mucosal polyamines (PAs) may be a promising approach to prevent colorectal cancer (CRC). Inhibition of ornithine decarboxylase (ODC) using low-dose eflornithine (DFMO, CPP-1X), combined with maximal PA export using low-dose sulindac, ...

Last Updated: 2 Aug 2016

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

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: 18 Dec 2015

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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: 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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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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Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version
 

Status: Not yet recruiting

Condition Summary: FAP-Familial Adenomatous Polyposis

 

Last Updated: 29 Jan 2015

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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: 26 Oct 2016

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