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

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 361 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

Go To URL
Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer.
 

Author(s): Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto, Ademar Lopes

Journal:

 

Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas ...

Last Updated: 31 Dec 1969

Go To URL
Familial Adenomatous Polyposis with Multiple Helicobacter-negative Early Gastric Cancers Treated by Endoscopic Submucosal Dissection.
 

Author(s): Katsuki Yaguchi, Makomo Makazu, Kingo Hirasawa, Makoto Sugimori, Ryosuke Kobayashi, Chiko Sato, Ryosuke Ikeda, Takehide Fukuchi, Yasuaki Ishii, Hiroaki Kaneko, Wataru Shibata, Shoji Yamanaka, Yoshiaki Inayama, Shin Maeda

Journal: Intern. Med.. 2017 Dec;56(24):3283-3286.

 

Stomach cancer rarely develops in patients with familial adenomatous polyposis (FAP), and Helicobacter pylori infection may increase the risk of FAP-related gastric cancer. We describe the case of a 64-year-old woman who developed multiple synchronous early gastric cancers without ...

Last Updated: 31 Dec 1969

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

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

Go to URL
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

Go to URL
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: 29 Jun 2018

Go to URL