FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079530127> ?p ?o ?g. }

• W2079530127 endingPage "157" @default.
• W2079530127 startingPage "151" @default.
• W2079530127 abstract "Colorectal cancer (CRC) that demonstrates microsatellite instability (MSI) is caused by either germline mismatch repair (MMR) gene mutations, or ‘sporadic’ somatic tumour <i>MLH1</i> promoter methylation. <i>MLH1</i> promoter methylation is reportedly correlated with tumour <i>BRAF</i> V600E mutation status. No systematic review has been undertaken to assess the value of <i>BRAF</i> V600E mutation and <i>MLH1</i> promoter methylation tumour markers as negative predictors of germline MMR mutation status. A literature review of CRC cohorts tested for MMR mutations, and tumour <i>BRAF</i> V600E mutation and/or <i>MLH1</i> promoter methylation was conducted using PubMed. Studies were assessed for tumour features, stratified by tumour MMR status based on immunohistochemistry or MSI where possible. Pooled frequencies and 95% CIs were calculated using a random effects model. <i>BRAF</i> V600E results for 4562 tumours from 35 studies, and <i>MLH1</i> promoter methylation results for 2975 tumours from 43 studies, were assessed. In 550 MMR mutation carriers, the <i>BRAF</i> V600E mutation frequency was 1.40% (95% CI 0.06% to 3%). In MMR mutation-negative cases, the <i>BRAF</i> V600E mutation frequency was 5.00% (95% CI 4% to 7%) in 1623 microsatellite stable (MSS) cases and 63.50% (95% CI 47% to 79%) in 332 cases demonstrating <i>MLH1</i> methylation or MLH1 expression loss. <i>MLH1</i> promoter methylation of the ‘A region’ was reported more frequently than the ‘C region’ in MSS CRCs (17% vs 0.06%, p<0.0001) and in <i>MLH1</i> mutation carriers (42% vs 6%, p<0.0001), but not in MMR mutation-negative MSI-H CRCs (40% vs 47%, p=0.12). Methylation of the ‘C region’ was a predictor of MMR mutation-negative status in MSI-H CRC cases (47% vs 6% in MLH1 mutation carriers, p<0.0001). This review demonstrates that tumour <i>BRAF</i> V600E mutation, and <i>MLH1</i> promoter ‘C region’ methylation specifically, are strong predictors of negative MMR mutation status. It is important to incorporate these features in multifactorial models aimed at predicting MMR mutation status." @default.
• W2079530127 created "2016-06-24" @default.
• W2079530127 creator A5005590125 @default.
• W2079530127 creator A5041732907 @default.
• W2079530127 creator A5061298063 @default.
• W2079530127 creator A5074124421 @default.
• W2079530127 creator A5087299465 @default.
• W2079530127 date "2012-02-24" @default.
• W2079530127 modified "2023-10-16" @default.
• W2079530127 title "Correlation of tumour BRAF mutations and<i>MLH1</i>methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification" @default.
• W2079530127 cites W1481966721 @default.
• W2079530127 cites W1564645839 @default.
• W2079530127 cites W1965997942 @default.
• W2079530127 cites W1967017324 @default.
• W2079530127 cites W1974349056 @default.
• W2079530127 cites W1974472970 @default.
• W2079530127 cites W1974592005 @default.
• W2079530127 cites W1975039405 @default.
• W2079530127 cites W1975233292 @default.
• W2079530127 cites W1977056521 @default.
• W2079530127 cites W1983130914 @default.
• W2079530127 cites W1992814231 @default.
• W2079530127 cites W1995266071 @default.
• W2079530127 cites W2001258296 @default.
• W2079530127 cites W2009633352 @default.
• W2079530127 cites W2011094690 @default.
• W2079530127 cites W2016503882 @default.
• W2079530127 cites W2018410996 @default.
• W2079530127 cites W2018871664 @default.
• W2079530127 cites W2019829644 @default.
• W2079530127 cites W2030951054 @default.
• W2079530127 cites W2038218379 @default.
• W2079530127 cites W2038332913 @default.
• W2079530127 cites W2044962228 @default.
• W2079530127 cites W2047041699 @default.
• W2079530127 cites W2050178984 @default.
• W2079530127 cites W2055871317 @default.
• W2079530127 cites W2056063025 @default.
• W2079530127 cites W2058935750 @default.
• W2079530127 cites W2066833606 @default.
• W2079530127 cites W2068222572 @default.
• W2079530127 cites W2073367460 @default.
• W2079530127 cites W2074900147 @default.
• W2079530127 cites W2081155096 @default.
• W2079530127 cites W2082623248 @default.
• W2079530127 cites W2084985708 @default.
• W2079530127 cites W2086965273 @default.
• W2079530127 cites W2088232329 @default.
• W2079530127 cites W2088531132 @default.
• W2079530127 cites W2089092137 @default.
• W2079530127 cites W2093026817 @default.
• W2079530127 cites W2095558763 @default.
• W2079530127 cites W2096857955 @default.
• W2079530127 cites W2103982179 @default.
• W2079530127 cites W2107918293 @default.
• W2079530127 cites W2112565258 @default.
• W2079530127 cites W2117127974 @default.
• W2079530127 cites W2119283670 @default.
• W2079530127 cites W2120099188 @default.
• W2079530127 cites W2120530158 @default.
• W2079530127 cites W2123278251 @default.
• W2079530127 cites W2128793721 @default.
• W2079530127 cites W2129434210 @default.
• W2079530127 cites W2133186671 @default.
• W2079530127 cites W2137461840 @default.
• W2079530127 cites W2140157472 @default.
• W2079530127 cites W2141866322 @default.
• W2079530127 cites W2143450527 @default.
• W2079530127 cites W2145297551 @default.
• W2079530127 cites W2146030548 @default.
• W2079530127 cites W2147517951 @default.
• W2079530127 cites W2150587328 @default.
• W2079530127 cites W2152700795 @default.
• W2079530127 cites W2153928454 @default.
• W2079530127 cites W2154584133 @default.
• W2079530127 cites W2164603921 @default.
• W2079530127 cites W2169171389 @default.
• W2079530127 cites W2169903102 @default.
• W2079530127 doi "https://doi.org/10.1136/jmedgenet-2011-100714" @default.
• W2079530127 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22368298" @default.
• W2079530127 hasPublicationYear "2012" @default.
• W2079530127 type Work @default.
• W2079530127 sameAs 2079530127 @default.
• W2079530127 citedByCount "243" @default.
• W2079530127 countsByYear W20795301272012 @default.
• W2079530127 countsByYear W20795301272013 @default.
• W2079530127 countsByYear W20795301272014 @default.
• W2079530127 countsByYear W20795301272015 @default.
• W2079530127 countsByYear W20795301272016 @default.
• W2079530127 countsByYear W20795301272017 @default.
• W2079530127 countsByYear W20795301272018 @default.
• W2079530127 countsByYear W20795301272019 @default.
• W2079530127 countsByYear W20795301272020 @default.
• W2079530127 countsByYear W20795301272021 @default.
• W2079530127 countsByYear W20795301272022 @default.
• W2079530127 countsByYear W20795301272023 @default.
• W2079530127 crossrefType "journal-article" @default.
• W2079530127 hasAuthorship W2079530127A5005590125 @default.

• next