"MUTYH-associated polyposis"

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG- academic.oup.com Verifying you are human. This may take a few seconds. academic.oup.com needs to review the security of your connection before

Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report. We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. We present the case of a 44 years old male, that sought medical consultation with a complaint of abdominal discomfort, that after five days changed its characteristics

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, and 5% will develop cancer. The incidence

Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. The reported proportion of patients with familial adenomatous polyposis who have adrenal lesions varies between 7% and 13% compared with 4% in the general population; the prevalence of adrenal lesions in patients with attenuated familial adenomatous polyposis and MUTYH-associated , and MUTYH-associated polyposis were included. Medical charts and imaging reports were analyzed for data on adrenal lesions. A radiologist reassessed all of the images. Patients had not routinely been screened for adrenal lesions. The frequency, characteristics, and progression of adrenal lesions in patients with polyposis who underwent abdominal imaging were assessed. Findings were compared

Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment

Frequency and Features of Duodenal Adenomas in Patients With MUTYH-associated Polyposis. MUTYH-associated polyposis (MAP) is similar to familial adenomatous polyposis (FAP), in that it increases the risk for duodenal adenomas and cancer. Almost all patients with FAP develop duodenal adenomas and 5% develop duodenal cancer. Little is known about the prevalence of duodenal adenomas and cancer

An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing. While this has benefits of reducing cost and allowing clinicians to cast a wide net pathogenic variants has not been established for combined biallelic MUTYH-associated polyposis and Lynch syndrome, the identification of multiple pathogenic variants does allow for screening for cancers associated with both syndromes and has implications for cancer risk for family members. In particular, this has significant impact on those who test negative for a known familial pathogenic variant, yet

Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations in the MAP testing strategy and testing criteria, it is possible that MAP is being under-identified both genotypically

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients. This study included 405 patients with at least 10 colonic polyps

Establishing a Diagnostic Road Map for MUTYH-Associated Polyposis. The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. MUTYH-associated polyposis (MAP) is an autosomal recessive adenomatous polyposis caused by biallelic germline mutations of the base-excision-repair gene MUTYH. In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys

Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations of MUTYH, a gene encoding a base excision repair (BER) protein that counteracts the DNA damage induced by the oxidative stress . MUTYH-associated polyposis (MAP) is now a well-defined cancer susceptibility syndrome, showing peculiar molecular features that characterize disease progression. However, some aspects of MAP, including diagnostic criteria, genotype-phenotype correlations, pathogenicity of variants, as well as relationships between BER and other DNA repair pathways, are still poorly understood. A deeper knowledge

be associated with a reasonable likelihood of clinical benefit to the patient/family. 5. Some pathogenic/likely pathogenic variants are associated with autosomal recessive conditions (e.g., Ataxia telangiectasia, Fanconi anemia, Constitutional Mismatch Repair Deficiency, MUTYH-associated polyposis). Carrier testing for partners of pathogenic/likely pathogenic variant carriers may have implications for risk

gastric cancer • CDH1 germline mutations (E-Cadherin) • Familial intestinal gastric cancer • Gastric cancer and proximal polyposis of the stomach Hereditary syndromes with increased gastric cancer risk • Gastrointestinal polyposis syndromes with increased gastric cancer risk • Familial adenomatous polyposis, Peutz-Jeghers syndrome, juvenile polyposis, MUTYH-associated polyposis • Cancer syndromes and (ii) Hereditary syndromes with an increased GC risk: Lynch syndrome, hereditary gastrointestinal (GI) polyposis syndromes (familial adenomatous polyposis [FAP], Peutz-Jeghers syndrome, juvenile polyposis, and MUTYH-associated polyposis), hereditary breast and ovarian cancer syndrome, and Li-Fraumeni syndrome, and hereditary homologous recombination deficiency (BRCA1, BRCA2, PALB2, and ATM

polyposis (FAP), MUTYH‐associated polyposis (MAP). The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome (STK11 associated), juvenile polyposis syndrome (SMAD4 or BMPR1A associated), the PTEN hamartoma tumor syndrome (including adenomas. …MUTYH-associated polyposis is a recessive condition caused by biallelic mutations in the MUTYH gene and is characterized by an increased risk for adenomatous colon polyps and colorectal cancer (80%). Individuals with MUTYH associated polyposis can develop only a few adenomatous colon polyps or they can have >100 adenomatous colon polyps. As a result, this condition can overlap with FAP

history and/or clinical findings are suggestive of an inherited polyposis syndromeRationaleInherited colorectal polyposis syndromes are associated with early age of onset of colorectal cancer, multiple first- or second-degree relatives affected, and multiple lifetime cumulative polyps.16 The adenomatous polyposis syndromes comprise familial adenomatous polyposis (FAP), MUTYH‐associated polyposis (MAP hypertrophy of the retinal pigmented epithelium, osteomas, dental abnormalities, benign cutaneous lesions such as epidermoid cysts and fibromas, and desmoid tumors. APC mutations are found in 80% of patients with 1,000 or more adenomas, 56% of patients with 100–999 adenomas, 10% of patients with 20–99 adenomas, and 5% of patients with 10–19 adenomas. …MUTYH-associated polyposis is a recessive condition