FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2806992246> ?p ?o ?g. }

• W2806992246 abstract "Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer.Here we report a woman who developed endometrial cancer at the age of 49 years. She had a family history of colorectal cancer (first-degree relative aged 52 years) and stomach cancer (second-degree relative with the age of onset unknown). No other family history was present, and she failed to meet the Amsterdam II criteria for the diagnosis of Lynch syndrome. Losses of MLH1 and PMS2, but not MSH2 and MSH6, proteins were observed by IHC in endometrial cancer tissues. Because MLH1 promoter hypermethylation was detected in endometrial cancer tissue samples, the epigenetic silencing of MLH1 was suspected as the cause of the protein loss. However, because of the early onset of endometrial cancer and the positive family history, a diagnosis of Lynch syndrome was also suspected. Therefore, we provided her with genetic counseling. After obtaining her consent, MLH1 promoter methylation testing and genetic testing of peripheral blood were performed. MLH1 promoter methylation was not observed in peripheral blood. However, genetic testing revealed a large deletion of exon 5 in MLH1; thus, we diagnosed the presence of Lynch syndrome.Both MLH1 germline mutation and MLH1 promoter hypermethylation may be observed in endometrial cancer. Therefore, even if MLH1 promoter hypermethylation is detected, a diagnosis of Lynch syndrome cannot be excluded." @default.
• W2806992246 created "2018-06-13" @default.
• W2806992246 creator A5017767410 @default.
• W2806992246 creator A5031179926 @default.
• W2806992246 creator A5043373703 @default.
• W2806992246 creator A5046119070 @default.
• W2806992246 creator A5056910408 @default.
• W2806992246 creator A5058193453 @default.
• W2806992246 creator A5059736273 @default.
• W2806992246 creator A5060852067 @default.
• W2806992246 creator A5061253656 @default.
• W2806992246 creator A5069468674 @default.
• W2806992246 creator A5077035869 @default.
• W2806992246 creator A5080397960 @default.
• W2806992246 creator A5085274831 @default.
• W2806992246 creator A5089245913 @default.
• W2806992246 date "2018-05-21" @default.
• W2806992246 modified "2023-09-27" @default.
• W2806992246 title "Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review" @default.
• W2806992246 cites W1504535992 @default.
• W2806992246 cites W1926715094 @default.
• W2806992246 cites W1963877113 @default.
• W2806992246 cites W1967017324 @default.
• W2806992246 cites W1989024544 @default.
• W2806992246 cites W1993051520 @default.
• W2806992246 cites W2056543072 @default.
• W2806992246 cites W2112237372 @default.
• W2806992246 cites W2112677111 @default.
• W2806992246 cites W2123278251 @default.
• W2806992246 cites W2125207696 @default.
• W2806992246 cites W2128793721 @default.
• W2806992246 cites W2159899668 @default.
• W2806992246 cites W2165092254 @default.
• W2806992246 cites W2491936132 @default.
• W2806992246 cites W2528543148 @default.
• W2806992246 cites W2058547177 @default.
• W2806992246 doi "https://doi.org/10.1186/s12885-018-4489-0" @default.
• W2806992246 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5963021" @default.
• W2806992246 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29783979" @default.
• W2806992246 hasPublicationYear "2018" @default.
• W2806992246 type Work @default.
• W2806992246 sameAs 2806992246 @default.
• W2806992246 citedByCount "22" @default.
• W2806992246 countsByYear W28069922462018 @default.
• W2806992246 countsByYear W28069922462019 @default.
• W2806992246 countsByYear W28069922462020 @default.
• W2806992246 countsByYear W28069922462021 @default.
• W2806992246 countsByYear W28069922462022 @default.
• W2806992246 countsByYear W28069922462023 @default.
• W2806992246 crossrefType "journal-article" @default.
• W2806992246 hasAuthorship W2806992246A5017767410 @default.
• W2806992246 hasAuthorship W2806992246A5031179926 @default.
• W2806992246 hasAuthorship W2806992246A5043373703 @default.
• W2806992246 hasAuthorship W2806992246A5046119070 @default.
• W2806992246 hasAuthorship W2806992246A5056910408 @default.
• W2806992246 hasAuthorship W2806992246A5058193453 @default.
• W2806992246 hasAuthorship W2806992246A5059736273 @default.
• W2806992246 hasAuthorship W2806992246A5060852067 @default.
• W2806992246 hasAuthorship W2806992246A5061253656 @default.
• W2806992246 hasAuthorship W2806992246A5069468674 @default.
• W2806992246 hasAuthorship W2806992246A5077035869 @default.
• W2806992246 hasAuthorship W2806992246A5080397960 @default.
• W2806992246 hasAuthorship W2806992246A5085274831 @default.
• W2806992246 hasAuthorship W2806992246A5089245913 @default.
• W2806992246 hasBestOaLocation W28069922461 @default.
• W2806992246 hasConcept C104317684 @default.
• W2806992246 hasConcept C111425858 @default.
• W2806992246 hasConcept C121608353 @default.
• W2806992246 hasConcept C126322002 @default.
• W2806992246 hasConcept C13514818 @default.
• W2806992246 hasConcept C143998085 @default.
• W2806992246 hasConcept C180754005 @default.
• W2806992246 hasConcept C2776559941 @default.
• W2806992246 hasConcept C2776674815 @default.
• W2806992246 hasConcept C2777088508 @default.
• W2806992246 hasConcept C2778677574 @default.
• W2806992246 hasConcept C2779115348 @default.
• W2806992246 hasConcept C2779767149 @default.
• W2806992246 hasConcept C501734568 @default.
• W2806992246 hasConcept C502942594 @default.
• W2806992246 hasConcept C526805850 @default.
• W2806992246 hasConcept C54355233 @default.
• W2806992246 hasConcept C60748783 @default.
• W2806992246 hasConcept C61320498 @default.
• W2806992246 hasConcept C71924100 @default.
• W2806992246 hasConcept C86803240 @default.
• W2806992246 hasConceptScore W2806992246C104317684 @default.
• W2806992246 hasConceptScore W2806992246C111425858 @default.
• W2806992246 hasConceptScore W2806992246C121608353 @default.
• W2806992246 hasConceptScore W2806992246C126322002 @default.
• W2806992246 hasConceptScore W2806992246C13514818 @default.
• W2806992246 hasConceptScore W2806992246C143998085 @default.
• W2806992246 hasConceptScore W2806992246C180754005 @default.
• W2806992246 hasConceptScore W2806992246C2776559941 @default.
• W2806992246 hasConceptScore W2806992246C2776674815 @default.
• W2806992246 hasConceptScore W2806992246C2777088508 @default.
• W2806992246 hasConceptScore W2806992246C2778677574 @default.
• W2806992246 hasConceptScore W2806992246C2779115348 @default.
• W2806992246 hasConceptScore W2806992246C2779767149 @default.
• W2806992246 hasConceptScore W2806992246C501734568 @default.

• next