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Adenomatous Polyposis Syndromes: MUTYH-Associated Polyposis

2018
MUTYH-associated polyposis was first described in 2002. It is inherited recessively, and patients usually develop between tens and hundreds of adenomas throughout life. The risk of developing colon cancer when surveillance is not started in time is very high.
Maartje Nielsen, Nielsen Maartje
exaly   +2 more sources

Frequency and Features of Duodenal Adenomas in Patients With MUTYH-Associated Polyposis

Clinical Gastroenterology and Hepatology, 2016
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 in patients with MAP, but current surveillance ...
Sarah-Jane Walton   +2 more
exaly   +3 more sources

Adenomatous Polyposis Syndromes: Familial Adenomatous Polyposis and MutYH-Associated Polyposis

Current Colorectal Cancer Reports, 2017
The purpose of this review is to provide an overview of the etiology, diagnosis, and clinical management of the two most common polyposis; change adenomatous to polyposis hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP).
Jean H. Ashburn, Matthew F. Kalady
openaire   +1 more source

Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum

European Journal of Medical Genetics, 2022
The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of MUTYH loss of function in the oncogenesis remains unclear.
Marie-Charlotte Villy   +6 more
openaire   +2 more sources

French experts report on MUTYH-associated polyposis (MAP)

Familial Cancer, 2012
Recent years have been characterised by an improvement in our knowledge of genetic determinism of adenomatous polyposes and by the description in 2002 of a new entity called "MUTYH-associated polyposis" (MAP), related to biallelic mutations of this gene.
Bruno, Buecher   +4 more
openaire   +2 more sources

Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP)

Familial Cancer, 2010
We describe a patient with MUTYH-associated polyposis diagnosed with colon cancer at 33 years of age, as well as gastric polyps at a later age. She was also diagnosed with papillary thyroid cancer at age 35. MUTYH-associated polyposis is an autosomal recessively inherited disease which has clinical overlap with Familial adenomatous polyposis and its ...
Muhammad Ali, Pervaiz   +2 more
openaire   +2 more sources

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

Acta gastro-enterologica Belgica, 2011
info:eu-repo/semantics ...
Claes, Kathleen   +9 more
openaire   +4 more sources

MUTYH-Associated Polyposis: The Irish Experience>.

Irish medical journal, 2018
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.
McVeigh, TP   +8 more
openaire   +1 more source

MUTYH Associated Polyposis Coli: One Common and One Rare Mutation

Digestive Diseases and Sciences, 2012
A 52-year-old Caucasian male with no significant medical history presented at our Department of Gastroenterology several years ago with vague complaints of abdominal distension, fecal urgency, and occasional hematochezia. There was no abdominal pain or weight loss. Familial history was unremarkable.
Heiko Ulrik, De Schepper   +3 more
openaire   +2 more sources

MUTYH-associated polyposis (MAP)

2010
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.
Nielsen, M., Hes, F.J.
openaire   +1 more source

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