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A Case of FAP Who Underwent Mucosectomy for Intramucosal Cancer that Repeatedly Developed in the Residual Rectal Mucosa After Stapled Ileal-Pouch Anal Anastomosis

Gan to kagaku ryoho. Cancer & chemotherapy

When we perform stapled ileal pouch anal anastomosis(IPAA)for familial adenomatous polyposis(FAP), some rectal mucosa persists. There is no consensus on surgical treatment when cancer develops at the residual mucosa. We report the case of a 43-year-old woman who repeatedly underwent endoscopic resection for intramucosal cancer that developed in the residual rectal mucosa 6 years after stapled IPAA, which she received at age 33. She was referred t...

A Comparison of Adverse Events and Functional Outcomes After Restorative Proctocolectomy for Familial Adenomatous Polyposis and Ulcerative Colitis

Diseases of the colon and rectum

PURPOSE : Restorative proctocolectomy is the procedure of choice for patients undergoing proctocolectomy for familial adenomatous polyposis or ulcerative colitis. This meta-analysis was designed to identify differences in adverse events and functional outcomes between these two groups. METHODS : Studies published between 1986 and 2003 that compared outcomes between patients with familial adenomatous polyposis and ulcerative colitis were includ...

A de novo Desmoid Tumor of the Surgical Site Following Foramen Magnum Meningioma Resection in a Patient with Gardner’s Syndrome: A Case Report and Review of the Literature

Journal of neuro-oncology

BACKGROUND : Gardner’s Syndrome is a familial adenomatous polyposis (FAP) syndrome that presents with colorectal polyps, craniofacial osteomas, lipomas, epidermoid cysts, and ampullary cancers. These patients are at significant risk for developing desmoid tumors, which are locally infiltrating fibromatous lesions. These are most commonly found in the abdominal cavity, but may be extra-abdominal. Although FAP-associated desmoid tumors often occur...

A de novo Germline APC mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review

Clinical Medicine Insights: Oncology

INTRODUCTION : Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype.6 However, there is considerable variability in the expression of specific phenotypes within families and among indiv...

A Distinct Mutation on the Alternative Splice Site of APC Exon 9 Results in Attenuated Familial Adenomatous Polyposis Phenotype

Familial cancer

A subset of APC mutation carriers shows a milder familial adenomatous polyposis phenotype (attenuated FAP) developing smaller number of polyps and colorectal cancer at an older age. It seems that a different mechanism to carcinogenesis is initiated according to the initial site of the germline mutation. The APC gene of a female patient with AFAP phenotypic features was analysed. A novel mutation located on the alternatively splice site of exon 9...

A Large-scale Meta-analysis to Refine Colorectal Cancer Risk Estimates Associated with MutYH Variants

British Journal of Cancer

BACKGROUND: defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal recessive trait. Numerous reports have suggested MUTYH mono-allelic variants to be low penetrance risk alleles. We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic a...

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A Proposed Staging System and Stage-Specific Interventions for Familial Adenomatous Polyposis

Gastrointestinal endoscopy

BACKGROUND : It is not possible to accurately count adenomas in many patients with familial adenomatous polyposis (FAP). Nevertheless, polyp counts are critical in evaluating each patient’s response to interventions. However, the U.S. Food and Drug Administration no longer recognizes the decrease in polyp burden as a sufficient chemoprevention trial treatment endpoint requiring a measure of “clinical-benefit.” To develop endpoints for future indu...

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

The American Journal of Gastroenterology

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for a...

ACMG Technical Standards and Guidelines for Genetic testing for Inherited Colorectal Cancer (Lynch Syndrome, Familial Adenomatous Polyposis, and MYH-Associated Polyposis)

Genetics in Medicine

Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an autosomal dominant manner. Familial adenomatous polyposis is manifested as colonic polyposis caused by mutati...

American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008

The American Journal of Gastroenterology

This document is the first update of the American College of Gastroenterology (ACG) colorectal cancer (CRC) screening recommendations since 2000. The CRC screening tests are now grouped into cancer prevention tests and cancer detection tests. Colonoscopy every 10 years, beginning at age 50, remains the preferred CRC screening strategy. It is recognized that colonoscopy is not available in every clinical setting because of economic limitations. I...

Best Practice Guidelines for Molecular Analysis of Colorectal Polyposis: Familial Adenomatous Polyposis Coli (FAP) and MutYH-Associated Polyposis (MAP)

Background:. UK Clinical Molecular Genetics Society (CMGS) consensus best practice guidelines for molecular analysis of familial adenomatous polyposis coli (FAP) were published in 2000. Technological developments in molecular testing for FAP together with the clinical and molecular characterisation of MUTYH-associated polyposis (MAP) led to the need to update the original FAP guidelines which were “retired” in December 2007. This update prese...

Clinical Practice Guidelines for Surveillance Colonoscopy – in Adenoma Follow-up; Following Curative Resection of Colorectal Cancer; and for Cancer Surveillance in Inflammatory Bowel Disease

The Cancer Council Australia

SUMMARY OF CLINICAL PRACTICE RECOMMENDATIONS These guidelines are intended for use by all practitioners and health workers who require information about surveillance colonoscopy – in adenoma follow-up, following curative resection of colorectal cancer, and for cancer surveillance in inflammatory bowel disease. They are specifically revising the colonoscopic surveillance sections of the Clinical Practice Guidelin es for the prevention, early dete...

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20 Foods That Help Prevent Colon Cancer and Rectal Cancer


This section of HealWithFood.org's Guide to Preventing Colon Cancer presents 20 superfoods for combating colon cancer and rectal cancer.

5 Things to Know When You’re Dating a Person With an Ostomy

The Mighty

Maybe we told you about this months ago and you’ve been mulling the thought of going further over; maybe we told you over cocktails on our first date. Maybe we met on a disability dating website; maybe we hunted you down on something less savory. But here’s the situation — your significant other might not have one of their urinary or digestive organs. Here’s some know-how on dating an ostomate (a person with an ostomy):

8 Myths About Ostomies Debunked

Huffington Post

More than 750,000 Americans live with an ostomy, a surgically created opening in the body for the discharge of body waste. Whether it's because of cancer, an inflammatory bowel disease like Crohn's disease or ulcerative colitis, diverticulitis, or incontinence, an ostomy can give people with debilitating illnesses a new lease on life - one with fewer hospitalizations and less debilitating pain.

A Patient’s Guide to FAP

Hereditary Colon Cancer Foundation

This is the most comprehensive FAP guide out there right now. It starts by breaking down each letter in FAP’s acronym and ends by breaking down the different colorectal surgery options. Trying to figure out your screening protocol or why screening is even necessary with FAP? This guide has you covered.  –  FAPvoice From the author: We are extremely excited to offer ‘A Patient’s Guide to FAP.’ This guide has b...

A Roadmap for Navigating Patient Advocacy

Mass Device

So, you and your organization have a passion for helping people and you want to work with FDA to advance your advocacy work. Are you unsure of the most effective way to enable patients to gain greater access to safe and effective drug therapies? We know government agencies can be big and confusing. That’s why we’re working on a roadmap to help make your navigation easier.  

An Introduction to Familial Adenomatous Polyposis from St. Jude

St. Jude Children's Research Hospital

Don’t be discouraged by the children’s hospital authorship, this article still has plenty of information for adults too. This article provides a decent introduction to F.A.P., with bonus points for having separate guidelines for adults and children with F.A.P.  –  FAPvoice From the author: Familial adenomatous polyposis is a condition that mostly affects the digestive system. People with familial adenomatous...

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A Familial Adenomatous Polyposis (FAP) Patient Education Conference and Its Impact on Patients and Families

Hereditary Cancer in Clinical Practice

Poster Presentation Background: Individuals with familial adenomatous polyposis (FAP) require increased lifelong surveillance due to the high risk of colorectal cancer and extracolonic features. Despite the existence of well-established surveillance guidelines, studies have shown that lack of patient knowledge is a major hurdle to adherence. Patient education conferences represent an avenue for patients to obtain disease-spec...

A Germline Homozygous Loss-of-Function Mutation in the Base Excision Repair Gene NTHL1 Causes Adenomatous Polyposis and Colorectal Cancer

European Journal of Human Genetics

Abstract Introduction: Patients diagnosed with adenomatous polyposis, i.e., the constitutive development of multiple colorectal adenomatous polyps, are at an increased risk to develop colorectal cancer (CRC). Currently, two adenomatous polyposis-associated syndromes are known: familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Whereas monoallelic APC germline mutations underlie FAP, MAP...

A Serendipitous Diagnosis of Familial Adenomatous Polyposis. What Next?

Fluids and Barriers of the CNS

Poster Presentation Background: A seven-year-old boy with shunted hydrocephalus and spina bifida attended eye screening following strabismus surgery. A serendipitous finding of congenital hypertrophy of the retinal-pigmented epithelium (CHRPE) on fundoscopy, led to a diagnosis of probable familial adenomatous polyposis (FAP). Neither parent had any evidence of CHRPE when screened, consistent with a new mutation in the patient. Genetic assessme...

Aggressive Gastric Cancer in a Patient with an APC Mutation and a Monoallelic MYH Mutation

Hereditary Cancer in Clinical Practice

Poster Presentation Familial Adenomatous Polyposis Syndrome (FAP) is an autosomal dominant inherited hereditary colorectal cancer syndrome that is characterized by hundreds to thousands of adenomatous colonic polyps and, without treatment and close surveillance, confers a high lifetime risk of colon cancer. Polyps usually develop in adolescence and virtually all will develo...

APC: The Key to Colon Cancer (The APC Protein and Its Role in Controlling the Cell Cycle)

Milwaukee School of Engineering Center for BioMolecular Modeling

Poster Presentation Abstract: Colorectal cancer affects 1 in 18 Americans, and is linked to mutations in the Adenomatous Polyposis Coli (APC) gene. The rapid division of colonocytes is regulated by the Wingless Type (Wnt) signaling pathway, mediated by β-catenin. In the nucleus, β- catenin binds to Transcription Cell Factor (TCF) and initiates transcription of cell cycle proteins. Alternatively, β-catenin binds to the 20-amino acid repeat r...

Audiology and Familial Adenomatous Polyposis: Do You Hear What I Hear?

Hereditary Cancer in Clinical Practice

Poster Presentation Background: The APC protein has an important role in maintaining function of microtubules in the ear which playa significant part in the mechanism of hearing. Preliminary data suggests that the APC protein is associated with an increased incidence of abnormal hearing which may affect intellectual function. We sought to assess the hearing among patients with FAP (Familial Adenomatous Polyposis). M...

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Clinical Diagnosis and Therapy of Colorectal Cancer

OMICS eBooks Group

Colorectal Cancer (CRC), the most common malignancy in Europe, results as an interaction of genetic and environmental factors. Three risk categories are known: sporadic, familial, and hereditary. Sporadic CRC originate from acquired somatic mutations over time, are associated with older age and account for approximately 70% of all CRC. Familial CRC are based o...

Colon and Rectal Cancer: Risk Factors

Cancer Quest

The reference discusses cancer cases that can be grouped into two broad categories, sporadic and familial. Sporadic cancers are those in which affected individual does not have a known family history of the disease. Familial cancers are those that occur in generations of a family and affected individuals generally have close relatives with same cancer type. These individuals may inherit defective genes that can cause development of cancer.

Colon Polyps and the Prevention of Colorectal Cancer


This book explains colon polyps and their relationship with colorectal cancer. This is among the most common cancers in both men and women. The book also provides information on anatomy, pathology, types of polyps and their treatment, and colonoscopy. The book pays particular attention to the risk factors for development of colorectal cancer (CRC) with guidance on its prevention and early diagnosis and treatment. The book is suitable for med...

Colorectal Cancer Screening


The book provides an overview of colorectal cancer screening including subjects ranging from epidemiology and molecular abnormalities to the latest screening techniques such as stool DNA and FIT, Computerized Tomography (CT) Colonography, High Definition Colonoscopes and Narrow Band Imaging. The book covers facts, principles, guidelines and figures related to screening. This can be considered a complete guide to colorectal cancer screening w...

Desmoid Tumors: Are They Benign or Malignant?

The distinction between benign and malignant tumors is classically based on the metastatic potential of a tumor type. While desmoid tumors do not metastasize and as such are classified as benign lesions, their clinical behavior, cellular biology, and molecular etiology all share more characteristics with malignancies than benign processes. Research into these aspects of desmoid tumor biology has the potential not only to develop better treatments...

Familial Adenomatous Polyposis


Summary description of familial adenomatous polyposis with links to a review article, clinical practice guidelines, guidance for genetic testing, and article for the general public, and clinical genetics review.

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