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Topic: Familial adenomatous polyposis


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  Familial adenomatous polyposis - Wikipedia, the free encyclopedia
Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine.
In patients with a strong family of colorectal cancer and symptoms suggestive of polyposis, colonoscopy is indicated, with biopsy of a number of polyps (especially of those that appear dysplastic).
FAP is due to mutations in the APC gene, which is located on the fifth chromosome (5q21-q22), or in the MUTYH gene located on chromosome 1 (p34.3-p32.1).
en.wikipedia.org /wiki/Familial_adenomatous_polyposis   (954 words)

  
 ASCRS
Familial Adenomatous Polyposis (FAP) is a dominantly inherited growth disorder due to an inactivating mutation in the tumor suppressor gene APC.
Genotype/phenotype studies in FAP have shown that attenuated disease is associated with mutations in exons 3 and 4, mild disease with mutations at the 3' end of exon 15, and extremely severe disease with mutations in exon 15G (including codon 1309, the "hot spot" for mutations in the gene).
The constellation of FAP with epidermal cysts, desmoids, osteomas and dental anomalies is given the eponym "Gardner's Syndrome" and is associated with mutations at the 3' end of exon 15.
www.fascrs.org /displaycommon.cfm?an=1&subarticlenbr=114   (3142 words)

  
 [No title]
Familial adenomatous polyposis is an inherited disease characterized by multiple colorectal tumors.
Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer.
The predominant brain tumor in these 10 families was medulloblastoma (11 of 14 patients, or 79 percent), and the relative risk of cerebellar medulloblastoma in patients with familial adenomatous polyposis was 92 times that in the general population (95 percent confidence interval, 29 to 269; P < 0.001).
www.people.virginia.edu /~smp8n/malgentest/colon/fap/fap.html   (744 words)

  
 GENERATIONS - Familial Adenomatous Polyposis   (Site not responding. Last check: 2007-10-12)
Familial Adenomatous Polyposis (FAP) is a precancerous hereditary disease of the gastrointestinal tract.
If a patient is the first person in the family to be diagnosed with FAP, the patient’s parents, brothers, and sisters should be examined to determine their risk of developing the disease.
Patients with FAP generally have adenomas in the rectum, therefore, sigmoidoscopy is encouraged from the age of 12 to 14 years for each at-risk child, brother, and sister.
www.generations.hk.com /background/Screening_FAP.php3   (1924 words)

  
 Scientific Articles: Familial Adenomatous Polyposis   (Site not responding. Last check: 2007-10-12)
Somatic APC and K-ras codon 12 mutations in periampullary adenomas and carcinomas from familial adenomatous polyposis patients.
Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.
Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors.
www.csu.edu.au /learning/ncgr/gpi/odyssey/colon/fap_arts.html   (475 words)

  
 Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP), also known as familial polyposis coli, adenomatous polyposis coli, or Gardner syndrome, is seen in approximately one in 8,000 individuals.
polyposis - the development of multiple benign (noncancerous) adenomatous polyps (>100) in the colon and rectum, which are described as having a "dense carpet-like appearance" on colonoscopy or sigmoidoscopy.
FAP is an autosomal dominant cancer genetic syndrome, which means that a child whose parent has the condition has a 50/50 chance of inheriting the familial APC gene mutation.
www.healthsystem.virginia.edu /uvahealth/hub_cancer/fap.cfm   (1219 words)

  
 Familial adenomatous polyposis - Genetics Home Reference   (Site not responding. Last check: 2007-10-12)
With classic familial adenomatous polyposis and its attenuated variant, other benign and malignant tumors are sometimes found in other places in the body, especially the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues.
Mutations in the APC and MUTYH genes cause familial adenomatous polyposis.
When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
ghr.nlm.nih.gov /condition=familialadenomatouspolyposis   (941 words)

  
 APC-Associated Polyposis Conditions
The penetrance of FAP in terms of colonic adenomatous polyposis and colon cancer is virtually 100% in untreated individuals.
Inherited in an autosomal dominant manner, PJS is characterized by the association of gastrointestinal polyposis and mucocutaneous pigmentation.
BRR syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis.
www.geneclinics.org /profiles/fap/details.html   (5809 words)

  
 Treatment of Familial Adenomatous Polyposis at Mayo Clinic
Familial adenomatous polyposis (FAP) is a genetic disorder that left undetected, almost always leads to colon cancer by the time a person reaches his or her 40s.
Familial adenomatous polyposis is a rare form of inherited colon cancer that causes hundreds to thousands of polyps to develop in the lining of the lower intestine (including the colon and rectum).
FAP results from a defect in the adenomatous polyposis coli (APC) gene and is autosomal dominant, meaning that only one parent must carry the mutated (abnormal) gene for a child to have a 50 percent chance of inheriting the disorder.
www.mayoclinic.org /familial-adenomatous-polyposis   (380 words)

  
 Familial polyposis coli (familial adenomatous polyposis or FAP)
FAP is an inherited condition caused by a mutation in a gene that is inherited in an autosomal dominant way.
FAP arises because of a mutation in the adenomatous polyposis coli (APC) gene, on chromosome no 5, which carries the instructions for the manufacture of a protein involved in the regulation of cell growth.
Most commonly, FAP is diagnosed when a relative of a known FAP-affected individual is screened using flexible sigmoidoscopy or colonoscopy, in which the doctor looks at parts of the colon through a small tube inserted into the rectum.
www.netdoctor.co.uk /diseases/facts/fpc.htm   (1271 words)

  
 Medcyclopaedia - Familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is part of the adenomatous polyposis syndromes including the Gardners syndrome and Turcots syndrome and an attenuated form of FAP.
In FAP patients adenomatous polyps occur with increased frequency in the duodenum, particularly in the peripapillary region.
Finally, it is reported that adenomatous polyps occur with increased frequency in the distal ileum of patients with FAP treated with total colectomy.
www.medcyclopaedia.com /library/topics/volume_iv_1/f/FAMILIAL_ADENOMATOUS_POLYPOSIS.aspx   (520 words)

  
 Familial Adenomatous Polyposis - August 2001: 708716   (Site not responding. Last check: 2007-10-12)
AB - Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer.
AB - Familial adenomatous polyposis (FAP) is a common hereditary syndrome characterized by early development of colorectal cancer consequent to extensive adenomatous polyps of the colon.
AB - Familial adenomatous polyposis is a dominantly inherited precancerous condition of the colorectum.
www.acor.org /cnet/708716.html   (1597 words)

  
 Familial polyposis
Familial polyposis is an inherited condition which primarily affects the large intestine (colon and rectum).
FAP patients felt to be at lower risk for rectal polyps might be counseled to consider the less radical surgery.
Individuals with FAP are at increased risk for cancers of the upper digestive tract including the upper portion of the small bowel (dudodenum) and the channels where bile flows (biliary tract).
www.lifesteps.com /gm/Atoz/ency/familial_polyposis.jsp   (1836 words)

  
 Gardner Syndrome - Digestion and digestive-related information on MedicineNet.com
Familial adenomatous polyposis (FAP), the overall designation for this syndrome, is characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence.
The average age of diagnosis of familial polyposis is 25 years of age, with cancers developing at age 20 to 30.
The designation familial adenomatous polyposis (FAP) is most often used today, based in part on the appreciation that the polyps are not confined to the colon.
www.medicinenet.com /gardner_syndrome/article.htm   (506 words)

  
 Familial adenomatous polyposis
Diagnosis of FAP is based on clinical examination of the classic manifestations of the disease (i.e.
diffuse adenomatous polyposis of the colon and rectum with extracolonic manifestations, duodenal adenomas, fundic gland polyps, congenital hypertrophy of the retinal pigment epithelium (CHRPE), osseous, subcutaneous and desmoid tumorsÂ…).
AAPC is clinically manifested as an isolated colonic polyposis, with polyps characterized by delayed occurrence (around 30 years) and reduced number (from few to a hundred), and rectal polyps may develop in exceptional cases.
www.orpha.net /data/patho/GB/uk-fap.html   (854 words)

  
 Reversal of Clubbing After Colectomy for Familial Adenomatous Polyposis: 15(1): Letter
To the Editor: A case of familial adenomatous polyposis (FAP) with clubbing of fingers is presented.
A diagnosis of familial adenomatous polyposis was made.
Therefore, FAP should be included as one of the GI causes of clubbing of the fingers and toes.
www.kfshrc.edu.sa /annals/151/lt01.html   (494 words)

  
 APC - Adenomatosis polyposis coli - aka: FPC, DP2 - Cancer GeneticsWeb
FAP is an autosomal dominant disorder causing extensive adenomatous polyps of the colon and early onset colorectal cancer.
Familial Adenomatous Polyposis (FAP) is an autosomal dominant disorder causing extensive adenomatous polyps in the colon and early onset colorectal cancer.The disorder is characterised by mutation of the APC gene.
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis.
www.cancerindex.org /geneweb/APC.htm   (735 words)

  
 MACGN - Familial Adenomatous Polyposis (FAP)
FAP is a condition in which polyps are inherited.
It deals with polyposis and hereditary colon cancer and is free to all individuals with these conditions and their families.
FAP (Familial adenomatous polyposis) - An inherited disorder of the gastrointestinal tract in which there are 100 or more precancerous polyps.
www.macgn.org /cc_fap1.html   (3673 words)

  
 Familial Adenomatous Polyposis - October 2001: 710716   (Site not responding. Last check: 2007-10-12)
Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (APC) gene that causes colorectal cancer if prophylactic colectomy is not performed.
AB - OBJECTIVE: The purpose of this study was to identify the adenomatous polyposis coli (APC) tumor suppressor gene mutation and level of wild-type p53 protein expression in patients with oral submucous fibrosis (OSF).
AB - Mutation of the adenomatous polyposis coli (APC) gene and the subsequent dysregulation of beta-catenin are well-documented abnormalities in familial adenomatous polyposis (FAP), as well as sporadic polyposis.
www.acor.org /cnet/710716.html   (3208 words)

  
 eMedicine - Familial Adenomatous Polyposis : Article Excerpt by: John M Carethers, MD
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder characterized by the presence of hundreds to thousands of adenomatous polyps throughout the colon.
Because the genetic defect in the germline of patients with FAP has been well characterized, syndromes once thought to be distinct from FAP are now recognized to be, in reality, part of the phenotypic spectrum of FAP.
The average age of onset of polyposis in FAP is 16 years.
www.emedicine.com /med/byname/familial-adenomatous-polyposis.htm   (560 words)

  
 Familial Adenomatous Polyposis (FAP) - Familial Gastrointestinal Cancer Registry - Mount Sinai Hospital, Toronto
Please share it with your family and with anyone who wants to learn more about this rare precancerous genetic disease.
Although FAP may affect only 1 in 10,000 people, it is considered a model for cancer prevention throughout the world.
The key to treatment for FAP is education, that is, learning about early diagnosis and appropriate follow-up.
www.mtsinai.on.ca /familialgicancer/Diseases/FAP   (261 words)

  
 Attenuated familial adenomatous polyposis definition - Medical Dictionary definitions of popular medical terms
Attenuated familial adenomatous polyposis: An inherited predisposition to colorectal cancer characterized by fewer than 100 adenomatous polyps in the colon and rectum.
People with attenuated familial adenomatous polyposis (AFAP) also tend to be older at the diagnosis of their polyps (average age of 44 years) and cancer (average age of 56 years), 10 to 15 years later than in classic FAP.
As in FAP, there may also be polyps higher up in the intestinal tract in the duodenum and stomach and an elevated risk of stomach, liver, and breast cancer.
www.medterms.com /script/main/art.asp?articlekey=38787   (482 words)

  
 Medical Dictionary: Familial adenomatous polyposis - WrongDiagnosis.com
Familial adenomatous polyposis: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5.
Familial adenomatous polyposis: Familial adenomatous polyposis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
Familial adenomatous polyposis: A rare, inherited condition, called familial polyposis, causes hundreds of polyps to form in the colon and rectum.
www.wrongdiagnosis.com /medical/familial_adenomatous_polyposis_printer.htm   (418 words)

  
 eMedicine - Familial Adenomatous Polyposis : Article by John M Carethers, MD
Family history of polyps and/or colorectal cancer at age 40 years or younger is suggestive.
However, in patients with FAP who have had colectomy with ileoanal anastomosis, sulindac or celecoxib may be beneficial in reducing the size and number of adenomatous polyps in the remaining rectum.
This is a photo of a colectomy specimen from a patient with familial adenomatous polyposis.
www.emedicine.com /MED/topic769.htm   (2247 words)

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