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Myh associated polyposis

T P McVeigh, M Duff, C Carroll, R O'Shea, L Bradley, M Farrell, D J Gallagher, C Clabby, A J Green
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH"...
December 12, 2016: Irish Medical Journal
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
October 2017: Familial Cancer
Lisanne Sara Rigter, Frank G J Kallenberg, Barbara Bastiaansen, Theo A M van Os, Floor E van Leeuwen, Monique Esther van Leerdam, Evelien Dekker
BACKGROUND: In a large number of patients with multiple gastrointestinal adenomatous polyps, no causal germline mutation can be found. Non-genetic factors may contribute to the development of adenomatous polyps in these unexplained polyposis patients. In the development of gastrointestinal cancer, prior exposure to abdominal radiotherapy has been identified as such a factor, as it increases the gastrointestinal cancer risk in cancer survivors. A relationship of radiotherapy with intestinal polyposis, however, has not yet been described...
November 8, 2016: BMC Cancer
James Church, Sara Kravochuck
BACKGROUND: MYH-associated polyposis is a recessively inherited syndrome of colorectal cancer predisposition attributed to biallelic germline mutations in the base excision repair gene MYH. Clinically it overlaps with attenuated familial adenomatous polyposis, sporadic oligopolyposis, serrated polyposis, familial colorectal cancer type X, and Lynch syndrome. There is no specific phenotypic feature of MYH-associated polyposis. We have noticed that a proportion of patients with MYH-associated polyposis presenting for yearly colonoscopy surveillance have rectums that are studded with small hyperplastic polyps...
June 2016: Diseases of the Colon and Rectum
Marco Petronio, Stephane Pinson, Thomas Walter, Marie-Odile Joly, Valerie Hervieu, Julien Forestier, Jean-Christophe Saurin
AIM: The aim of this article is to clarify the epidemiologic, clinical, endoscopic, biological and genetic characteristics of type 1 serrated polyposis patients. PATIENTS AND METHODS: Consecutive patients responding to the WHO definition of type 1 serrated polyposis in one reference center for polyposis patients accepted genetic counseling. Detailed data on previous endoscopies, histology, and life habits were recorded, after informed consent, germline analysis of MUTYH, APC, and PTEN germline mutations...
April 2016: United European Gastroenterology Journal
Benedetto Mangiavillano, Antonella De Ceglie, Federica Boeri, Massimo Conio
No abstract text is available yet for this article.
May 2016: Gastrointestinal Endoscopy
M Sereno, M Merino, M López-Gómez, C Gómez-Raposo, F Zambrana Tébar, J Moreno Rubio, J Espinós, S Martín-Algarra, E Casado Sáenz
Colorectal cancer (CRC) is one of the most frequent cancer in first world. Two hereditary CCR syndrome have been described: familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer. A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an increased risk of CRC and is responsible for 30-40 % of adenomatous polyposis cases in which an APC mutation cannot be found. However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer...
August 2014: Clinical & Translational Oncology
Satish K Warrier, Justin M Yeung, A Craig Lynch, Alexander G Heriot
OBJECTIVE: Young patients with familial syndromes have an increased metachronous cancer rate. Effective management is possible by identifying this high-risk group prior to index colectomy. The study surveys the Association of Coloproctology of Great Britain and Ireland (ACPGBI) membership preoperative evaluation and clinical management in young patients with colorectal cancer (CRC). METHOD: An electronic survey was sent to the membership of the ACPGBI. The survey polled members on clinical scenarios relating to young-onset CRC patients...
July 2014: World Journal of Surgery
Bor-Jang Hwang, Gouli Shi, A-Lien Lu
MutY DNA glycosylase homologs (MYH or MUTYH) reduce G:C to T:A mutations by removing misincorporated adenines or 2-hydroxyadenines paired with guanine or 8-oxo-7,8-dihydroguanine (8-oxo-G). Mutations in the human MYH (hMYH) gene are associated with the colorectal cancer predisposition syndrome MYH-associated polyposis. To examine the function of MYH in human cells, we regulated MYH gene expression by knockdown or overproduction. MYH knockdown human HeLa cells are more sensitive to the killing effects of H2O2 than the control cells...
January 2014: DNA Repair
Madhuri Hegde, Mathew Ferber, Rong Mao, Wade Samowitz, Arupa Ganguly
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 mutations in the APC gene and is also inherited in an autosomal dominant manner...
January 2014: Genetics in Medicine: Official Journal of the American College of Medical Genetics
S K Warrier, M F Kalady, R P Kiran, J M Church
BACKGROUND: Young patients with colorectal cancer (CRC) present a diagnostic and clinical challenge. The aim of our study was to survey the approaches to preoperative evaluation and clinical management of young patients with CRC by colorectal surgeons in North America. METHODS: A standard electronic survey was sent to the members of the American Society of Colon and Rectal Surgeons. The survey polled management decisions in various clinical scenarios for CRC patients less than 50 years old...
March 2014: Techniques in Coloproctology
Josep J Centelles
Colorectal cancer (CRC) is one of the main causes of death. Cancer is initiated by several DNA damages, affecting proto-oncogenes, tumour suppressor genes, and DNA repairing genes. The molecular origins of CRC are chromosome instability (CIN), microsatellite instability (MSI), and CpG island methylator phenotype (CIMP). A brief description of types of CRC cancer is presented, including sporadic CRC, hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndromes, familiar adenomatous polyposis (FAP), MYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), and juvenile polyposis syndrome (JPS)...
2012: ISRN Oncology
Adela Castillejo, Ana Beatriz Sanchez-Heras, Rodrigo Jover, Maria Isabel Castillejo, Carla Guarinos, Silvestre Oltra, Ana Martínez-Canto, Victor Manuel Barbera, Juan Laforga, Artemio Paya, Cristina Alenda, Jose Luis Soto
No abstract text is available yet for this article.
August 10, 2012: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
F Z Laarabi, I Cherkaoui Jaouad, S Baert-Desurmont, K Ouldim, A Ibrahimi, N Kanouni, T Frebourg, A Sefiani
BACKGROUND: Biallelic germline mutations in the MYH gene cause MYH-associated polyposis (MAP) disease, an autosomal recessive form of inherited colorectal cancer. People with MAP tend to develop attenuated multiple adenomatous colon polyps during their lifetime and will have an increased risk of colorectal cancer. Contrary to familial adenomatous polyposis, the number of adenomas is often lower in MAP (from 5 to 100), and even some patients have recently been reported with no identified adenomas...
March 15, 2012: Gene
Fay Kastrinos, Sapna Syngal
Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders including Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers, and predictive genetic testing is available to identify mutation carriers and at-risk family members...
November 2011: Cancer Journal
A Bolocan, D Ion, R V Stoian, M B Serban
The case presented raised our scientific curiosity and it is worthy of being brought in front of the medical audience because of several reasons presented below. Presently, there are 3 hereditary syndromes that have a demonstrated etiological relationship with the colorectal cancer: Familiar Adenomatous Polyposis (FAP syndrome), HNPCC syndrome (Hereditary Nonpoliposis Colorectal Cancer) and MAP syndrome.Discovered only in 2002, the MAP syndrome (MYH associated polyposis) is the first hereditary syndrome that has autosomal recessive transmission...
January 2011: Journal of Medicine and Life
McKinsey Goodenberger, Noralane M Lindor
Individuals with Lynch syndrome have an increased risk for colorectal cancer, endometrial cancer, and other associated cancers such as gastric cancer, ovarian cancer, urothelial cancers, hepatobiliary tract cancer, brain cancer, cancer of the small intestine, pancreatic cancer, and particular skin cancers. Lynch syndrome caused by defects in DNA mismatch repair genes, and diagnostic testing for Lynch syndrome begins with microsatellite instability and immunohistochemical analysis on the tumor specimen followed by germline genetic testing and possibly further studies on the tumor...
July 2011: Journal of Clinical Gastroenterology
Robert Gryfe
Colorectal cancer is common in the Western world; ~5% of individuals diagnosed with colorectal cancer have an identifiable inherited genetic predisposition to this malignancy. Genetic testing and rational clinical management recommendations currently exist for the management of individuals with a variety of colorectal cancer syndromes, including hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome), familial adenomatous polyposis (FAP), MYH-associated polyposis (MAP), and the hamartomatous polyposis syndromes (Peutz-Jeghers, juvenile polyposis, and Cowden disease)...
November 2009: Clinics in Colon and Rectal Surgery
J Rüschoff, E Heinmöller, A Hartmann, R Büttner, T Rau
One third of colorectal carcinomas (CRC) show familial clustering of which about 5% have a monogenetic trait. Distinction between disease with and without polyposis, tumor histology and tumor spectrum in a given patient are all of diagnostic relevance. Familial adenomatous polyposis (FAP) underlies approximately 1% of CRC characterized by rapidly forming (>100) adenomas. In contrast to these about 2%-3% of CRC have a hereditary background without polyposis (HNPCC). This is the only hereditary tumour syndrome to date for which a tissue-based molecular screening test is available...
October 2010: Der Pathologe
F Z Laarabi, I Cherkaoui Jaouad, A Benazzouz, D Squalli, A Sefiani
BACKGROUND: MYH-associated polyposis (MAP) is an autosomal recessive inherited disease. People with MAP tend to develop multiple adenomatous colon polyps during their lifetime and have an increased risk of colorectal cancer. MAP has only recently been described and there is much to be learned about the condition. Recessively inherited mutations in the base excision repair gene MYH have recently been associated with predisposition to colorectal adenomas and cancer. The epidemiology of MYH-associated polyposis (MAP) is poorly known in populations with high levels of consanguinity like North African populations, in particular in Morocco, and the MAP carrier frequency in the general Moroccan population has never been evaluated...
May 2011: Annals of Human Biology
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