Linked Life Data

18980800

Source:http://linkedlifedata.com/resource/pubmed/id/18980800

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-16
pubmed:abstractText
MUTYH-associated polyposis (MAP) is an autosomal recessive condition predisposing to colorectal cancer, caused by constitutional biallelic mutations in the base excision repair (BER) gene MUTYH. Colorectal tumours from MAP patients display an excess of somatic G>T mutations in the APC and KRAS genes due to defective BER function. To date, few extracolonic manifestations have been observed in MAP patients, and the clinical spectrum of this condition is not yet fully established. Recently, one patient with a diagnosis of endometrial cancer and biallelic MUTYH mutations has been described. We here report on two additional unrelated MAP patients with biallelic MUTYH germline mutations who developed endometrioid endometrial carcinoma. The endometrial tumours were evaluated for PTEN, PIK3CA, KRAS, BRAF and CTNNB1 mutations. A G>T transversion at codon 12 of the KRAS gene was observed in one tumour. A single 1bp frameshift deletion of PTEN was observed in the same sample. Overall, these findings suggest that endometrial carcinoma is a phenotypic manifestations of MAP and that inefficient repair of oxidative damage can be involved in its pathogenesis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1872-7980
pubmed:author
pubmed:issnType
Electronic
pubmed:day
18
pubmed:volume
274
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
266-70
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations.
pubmed:affiliation
Department of Clinical Pathophysiology, Medical Genetics Unit, University of Florence Medical School, Viale G. Pieraccini 6, 50139 Florence, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't