Results 111 to 120 of about 2,323 (154)

A Novel Germline <i>MUTYH</i> Mutation (p.W156∗) in High-Grade Astrocytoma, <i>IDH</i> Mutant. [PDF]

Hum Mutat
Zhang L, Xi S, Yuan L, Li Z, Liu X, Gu J, Li S, Huang L, Hu W, Fu L.   +9 more
europepmc   +1 more source

Molecular markers associated with elevated colorectal cancer risk: a mini review. [PDF]

Hered Cancer Clin Pract
Szuman M, Kazimierczyk M, Grot N, Kaczmarek-Ryś M, Kryszczyńska A, Dziechciowska I, Knaur M, Hnatyszyn A, Hryhorowicz S, Pławski A.   +9 more
europepmc   +1 more source

Genetics, genomics and clinical features of adenomatous polyposis. [PDF]

Fam Cancer
Joo JE, Viana-Errasti J, Buchanan DD, Valle L.   +3 more
europepmc   +1 more source

Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

Sherwood K, Fernandez-Tajes J, Gül G, Thorn S, Ward JC, Wilson JF, Palles C, Bishop DT, Houlston RS, Dunlop MG, Tomlinson IP.   +10 more
europepmc   +1 more source

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MUTYH-associated polyposis (MAP)

Critical Reviews in Oncology/Hematology, 2011
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors.
Maartje Nielsen
exaly   +5 more sources

Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study [PDF]

Gastroenterology, 2021
Although duodenal adenomas and cancer appear to occur significantly less frequently in autosomal recessive MUTYH-associated polyposis (MAP) than in autosomal dominant familial adenomatous polyposis (FAP),1 current guidelines recommend similar endoscopic surveillance for both disorders.2-4 This involves gastro-duodenoscopy starting at 25 to 35 years of ...
Zeinab Ghorbanoghli, Eduardo Vilar, Marco Vitellaro   +2 more
exaly   +8 more sources

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

Gastroenterology, 2009
MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported.A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families.
Julian Sampson, Stefan Aretz, Maartje Nielsen   +2 more
exaly   +4 more sources

MUTYH-associated polyposis

Best Practice & Research Clinical Gastroenterology, 2009
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by adenomatous polyps of the colorectum and a very high risk of colorectal cancer. It appears to be at least as prevalent as autosomal dominant familial adenomatous polyposis (that is caused by truncating mutations in the APC gene) with which it shares important ...
Julian R, Sampson, Natalie, Jones
openaire   +2 more sources

MUTYH-Associated Polyposis and Colorectal Cancer

Surgical Oncology Clinics of North America, 2009
This article reviews the role of defective base excision repair, and MUTYH specifically, in colorectal cancer etiology and discusses the consequences of MUTYH gene defects, with particular emphasis on clinical relevance to colorectal polyposis, colorectal cancer risk, and appraising the risk of extra-colonic malignancy.
Malcolm G, Dunlop, Susan M, Farrington
openaire   +2 more sources

MUTYH-Associated Polyposis

2016
MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC ...
Maureen E. Mork, Eduardo Vilar
openaire   +1 more source