Colorectal cancer in familial adenomatous polyposis is a preventable disease in at-risk relatives of patients with primary cases. Until the recent establishment of a register in Western Australia, there has been no registration of pedigrees or central organization of surveillance in Australia. In the present study, the experience of 20 such families who were associated with The Royal Melbourne Hospital was documented, with an analysis of the reas...

Familial adenomatous polyposis (FAP) is a hereditary condition transmitted in an autosomal dominant fashion, which is characterized by the appearance of numerous adenomatous polyps in the colon. This condition results from mutation of the APC gene and accounts for 1% of cases of colorectal cancer.1 FAP is frequently associated with extracolonic manifestations: desmoid tumors, osteomas, pigmented lesions of the retina, adenomas of the upper gastr...

The field of endoscopy has revolutionized the diagnosis and treatment of gastrointestinal (GI) diseases in recent years. Besides the ‘traditional’ endoscopic procedures (esophagogastroduodenoscopy, colonoscopy, flexible sigmoidoscopy, and endoscopic retrograde cholangiopancreatography), advances in imaging technology (endoscopic ultrasonography, wireless capsule endoscopy, and double balloon enteroscopy) have allowed GI specialists to detect...

Background/Aims: Desmoid tumors (DTs) are rare, locally invasive neoplasms that may affect 10-25 % of familial adenomatous polyposis (FAP) patients. Our aim was to evaluate incidence and clinical presentation among our patients, the potential impact on FAP outcome and to discuss treatment. Materials and methods: Charts from 133 FAP (1977-2013) were reviewed. Patients with DTs were separated to retrieve demographic, clinical and management data...

OBJECTIVES: Empirical research shows that patients with severe illnesses prefer the physician to dominate decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and the lack of expertise, the patient is forced to become knowledgeable about his own disease state. Objectives of this study were to describe the experiences of patient-physician interaction in rare diseases, to develop an empiricall...

Congenital hypertrophy retinal pigment epithelium (CHRPE) is a benign lesion of the optic fundus, which typically has no clinical signifi cance. However, the recent development of CHRPE is oft en associated with familial adenomatous polyposis (FAP). Th ere are no reports of its association with a solitary colonic neoplasm. To our knowledge, we present the fi rst case of new CHRPE-like lesions as a presenta-tion of a solitary colonic pre-neoplasm....

Gardner’s syndrome is a genetic disease which leads to a high chance of malignant degeneration in untreated patients. Typically, it presents intestinal polyposis, bone and mesenchymal tumors. The initial symptoms often appear in the head-neck area with osteomas, several dental anomalies, odontogenic tumors, exostosis and epidermoid cysts. In this sense, the role of odontologists and maxillofacial surgeons is of crucial importance in the early d...

Familial adenomatous polyposis patients are at risk of duodenal cancer. Surveillance is indicated and the extent of duodenal polyposis is quantified by the Spigelman staging system. We noticed an impressive increase in high Spigelman stages over the years and therefore decided to investigate whether this increase might be due to the time-lapse since the inception of surveillance or related to improvements in endoscopic imaging and/or changes in d...

Testicular Sertoli cell tumors are rare and usually sporadic and unifocal. The large cell calcifying Sertoli cell tumor variant is known to be associated with Carney and Peutz–Jeghers syndromes and can be bilateral in these patient populations. There has been no documented association of Sertoli cell tumor with familial adenomatous polyposis (FAP) in the literature. The case presented is a bilateral Sertoli cell tumor occurring in a 34-year-old...

Ovarian microcystic stromal tumor (MCST) is a very rare neoplasm; hence, its nomenclature was recently designated as “Distinctive morphologic and immunohistochemical features” in 2009. Its exact origin, etiological genetic alterations, and background are not yet clearly known. Familial adenomatous polyposis (FAP) is an autosomal dominant disease that leads to development of colorectal polyps via germ-line mutations of the APC gene on...

This guide provides some basic information about the effects ostomy surgery has on digestion and food absorption. After healing is complete and the ostomy is functioning normally, most people with ostomies can return to a normal diet. If you have a special diet because of heart disease, diabetes or other health problems, you should ask your doctor about a diet that will work with both that problem and your ostomy.

Eat 6 to 8 small meals a day Eating small, frequent meals will put less stress on your shortened bowel. Small meals help control your symptoms, and will result in better digestion and absorption. Eat slowly and chew your food well. Once your bowel has adapted, you can resume having 3 meals a day.

This clinical practice guideline is based on the collaborative efforts of the Belgian Health Care Knowledge Centre (KCE), the College of Human Genetics and the College of Oncology. This guideline complements the recently published practice guideline for colorectal cancer and is a first report in a short series of oncogenetic testing guidelines.

People who have a genetic diagnosis of familial adenomatous polyposis (FAP), or are at risk of having FAP but genetic testing has not been performed or is not feasible, should have annual sigmoidoscopy, beginning at age 10 to 12 years, to determine if they are expressing the genetic abnormality. Genetic testing should be considered in patients with FAP who have relatives at risk. Genetic counseling should guide genetic testing and considerations...

The New Brunswick Cancer Network (NBCN) recognizes the importance of prevention and screening in reducing the burden of cancer for New Brunswickers. Historically, colon cancer screening in the province has been done in an opportunistic fashion, driven primarily by the relationship between patients and their primary care providers. Subsequent to the announcement in 2009 to establish a provincial Colon Cancer Screening Program (CCSP) for New Bruns...

The purpose of this report is to provide an evidence-based summary of current New Zealand and overseas evidence to inform best practice in providing colonoscopic surveillance for people who are at increased risk of developing colorectal cancer. Improving early detection and diagnosis of cancer, and improving access to timely and appropriate treatment are identified as goals of the New Zealand Cancer Control Strategy Action Plan 2005–2010.1

Colorectal cancer in the United Kingdom Colorectal cancer is the third commonest cause of cancer related death (after breast and lung cancer) in the United Kingdom and the second commonest in non smokers. Around 100 new cases of colorectal cancer are diagnosed each day in the UK. In 2002 there were 34,889 new cases of colorectal cancer diagnosed in the United Kingdom, and approximately 17,000 deaths (CRUK 2006), but there has been a substantial...

Ileostomy surgery is done for many different diseases and problems. Some conditions that can lead to ileostomy surgery include ulcerative colitis, Crohn’s disease, familial polyposis, and cancer. Sometimes an ileostomy is only needed for a short time, but for some people it’s lifelong. For the thousands of people who have serious digestive diseases, an ileostomy can be the start of a new and healthier life. If you’ve had a chronic (long-...

Restorative proctocolectomy (RPC) with ileal pouch-anal anastomosis is the surgical procedure of choice for patients with ulcerative colitis (UC). It is also performed in selected patients with familial adenomatous polyposis (FAP). A significant proportion of patients will develop pouch dysfunction. Flexible pouchoscopy is the most important initial investigation in patients with dysfunction. It is also important in UC and FAP surveillance. The a...

This Information Guide aims to help you understand Familial Adenomatous Polyposis (FAP), a rare condition that tends to run in some families. The information in this booklet intends to add to, and not replace, discussions with doctors, genetic counsellors, nurses and other health professionals. We suggest that you read this booklet in the order in which it is written, as each new section builds upon information in previous sections. Some medical...

To be completely honest, I have no idea how to introduce myself or the disorders and conditions I deal with on a day to day basis. It can be challenging for anyone, myself included, regardless of the condition, disorder, or disease, to primarily categorize themselves upon first introduction. Do I say, “I suffer from…” or “I have to deal with…” or even something sassy to illicit a laugh when explaining a potentially life-threatening...

“You’re making poor choices for a 22-year-old.” Those words have stuck with me for five years since I came in to see you, looking for an answer to my long list of ongoing symptoms, many terrifying and embarrassing to say out loud. Instead of getting an answer, you limited your investigation to my diet and exercise routine, because at my age that had to be the only reason why I was experiencing debilitating, red-flag symptoms. I left t...

I was lucky enough to spend a little time with two of our community members and FAP patients, Jenny Jones (lifesapolyp.blogspot.com/) and Tracy Whitt, to learn how they manage their FAP while still enjoying the summer months. My interview with Jenny is below, and you can find my interview with Tracy here.   Dakota: Jenny, how do you handle summer activities? Jenny: Everything is done a bit differently and you have to take into co...

I was lucky enough to spend a little time with two of our community members and FAP patients, Tracy Whitt and Jenny Jones, to learn how they manage their FAP while still enjoying the summer months. My interview with Tracy is below. You can find my interview with Jenny here.   Dakota: Tracy, how do you handle summer activities? Tracy: Some activities you need to do differently.My energy levels in past years were very low. Now, I can...

Click here to view our Spring 2017 FAPtalk Newsletter, the seasonal newsletter for those living with Familial Adenomatous Polyposis (FAP). Want to SUBMIT your story? Everyone is welcome! Just follow these guidelines: Attach your text document in either Word (.doc) or Rich Text Format (.rtf) to an email sent to oneFAPvoice@rarelifesolutions.com that also tells us how to reach you for more information. For photographs, attach them to...

We all know our poop says important things about us so why can’t we say important things about poop to others? In honor of Colon Cancer Awareness Month, here’s a guide on communicating about stool and two of the organs it travels through with everyone who poops (a.k.a., everyone).

Click here to download the Winter 2016 FAPtalk Newsletter, the seasonal newsletter for those living with Familial Adenomatous Polyposis (FAP). Want to SUBMIT your story? Everyone is welcome! Just follow these guidelines: Attach your text document in either Word (.doc) or Rich Text Format (.rtf) to an email sent to FAPvoice@FAPvoice.com that also tells us how to reach you for more information. For photographs, attach them to an email...

The holidays have arrived. Soon so will the droves of relatives, delectable treats, and a plethora of holiday cheer. It’s the most joyful time of year — or at least so we’re told and go all out trying to convince others of. The holidays are steeped in tradition but, when you’re suddenly dealing with a body that doesn’t match the narrative of holidays’ past, feelings of guilt and isolation may surface, dampening your merry spirit. On...

Feeling anxious about upcoming travel plans? With these travel tips, you don’t necessarily have to throw your wanderlust overboard because of Familial Adenomatous Polyposis. Have more questions after reading this article? Reach out to the FAP community by posting your questions in rareCourage, or to offer your own advice.

Whether it’s tofurkey, turducken, or seven fish, the autumnal holidays often revolve around a minefield of food. The overabundance of savory aromas poses a problem for even the healthiest celebrator but can be especially challenging with an abbreviated digestive tract. Below is a "recipe for success," advice whipped up for those with Familial Adenomatous Polyposis to enjoyably eat, and digest, during the holidays (sans obstruction).

Poster Presentation Objective: This study aims to examine colonic polyp phenotype, the surgical outcomes, and the reasons for colectomy in individuals with attenuated familial adenomatous polyposis (AFAP). Methods: Colonoscopy and colectomy medical records were obtained for 197 individuals with a known genetic mutation in the region of the APC gene causative of AFAP. Results: The number of adenomas was highly variable for both individu...

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 develop polyps by age 30. It is caused by a mutation in the Adenomatous Polypos...

Poster Presentation Background: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder that is caused by germline mutations in the base excision repair gene MUTYH. Phenotypic expression is usually that of an attenuated polyposis syndrome with anywhere from 3-100+ polyps and mixed pathology including tubular adenomas, sessile serrated adenomas, and/or hyperplastic polyps. The use of non-steroidal anti-inflammatory drugs (NSAIDs) h...

Poster Presentation Background: Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP). Based on previous work with mutation-verified patients from a large AFAP kindred, we showed that AFAP patients may be under-diagnosed, in the absence of a genetic diagnosis. For example, for patients between 30 and 79 years of age, 28% had fewer than 10 adenomas; 22% had fewer than 6 adenomas,...

Poster Presentation Background: Patients with familial adenomatous polyposis (FAP) are perceived to be at increased risk for developing thyroid cancer. However, screening guidelines for thyroid cancer in FAP patients are not well established. To report the prevalence of thyroid cancer and benign thyroid disease in FAP patients in a single-center hereditary colorectal cancer registry. Methods: A retrospective chart review of all FAP patien...

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-specific information...

Clinical Vignettes Purpose: NA Methods: 30 year old Indian male with no known prior medical history was admitted for total colectomy with ileorectal anastomosis for FAP syndrome. His father was diagnosed with colon cancer (ca) at the age of 52, prompting a colonoscopy in his brother that demonstrated multiple (>50) colonic polyps. The patient’s colonoscopy found over 100 polyps ranging from 2 mm to 3 cm, tubular with tubular-villous ade...

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). Methods: Patients with F...

Clinical Vignettes Purpose: To report a rare case and emphasize the significant association of AFAP with ampullary adenocarcinoma. Methods: Literary Review and Clinical Vignette Results: To report the various types of occurrences in AFAP and highlight the need for further research in dealing with these presentations. Conclusion: A 66-year-old male with a family history of colon cancer presented with a two week history of right upper...

Poster Background: Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease with a germline mutation of the APC gene. In spite of this specific genetic alteration early diagnosis in young patients without polyposis onset and lack of family history can be difficult and finally lethal. Thus, additional sensitive diagnostics are required. We aimed at identifying a protein expression signature in macroscopically unaffected...

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...

Inflammatory bowel disease (IBD) and familial adenomatous polyposis (FAP) are complex diseases, which are subject to numerous medical researches. Despite increased knowledge on the pathophysiological process, many aspects remain rather unclear, especially concerning IBD. The genetic basis of FAP is well known, but there is still debate about IBD, which seems.

The adenomatous polyposis coli (APC) gene is mutated in the germline of patients with hereditary disease familial adenomatous polyposis (FAP) and also been implicated in the pathogenesis of sporadic colorectal cancers. The APC gene in FAP provides a reasonable candidate for a preventive gene therapy strategy, since APC mutations appear to be fundamental to the early stages of all types of colorectal carcinogenesis, whether familial or sporadic....

Thirty-eight published papers, co-authored by Allan D. Spigelman, 1989-1994, covering these subjects: adenoma, familial diseases, intestinal polyps

The book covers these subjects: Intestinal Polyps, Familial Polyposis Syndrome

A 20-page book with illustrations

Electronic Book: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.

The book covers these subjects among others: Colon Anatomy, Cancer, Genetic Aspects

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...

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...