FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2039631657> ?p ?o ?g. }

• W2039631657 abstract "Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome.Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed.Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of ≥ 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson).The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models." @default.
• W2039631657 created "2016-06-24" @default.
• W2039631657 creator A5013177039 @default.
• W2039631657 creator A5014365256 @default.
• W2039631657 creator A5015055376 @default.
• W2039631657 creator A5017856517 @default.
• W2039631657 creator A5018892140 @default.
• W2039631657 creator A5026777870 @default.
• W2039631657 creator A5031572358 @default.
• W2039631657 creator A5034740310 @default.
• W2039631657 creator A5038766726 @default.
• W2039631657 creator A5045116981 @default.
• W2039631657 creator A5065002716 @default.
• W2039631657 creator A5073747083 @default.
• W2039631657 date "2012-02-09" @default.
• W2039631657 modified "2023-09-30" @default.
• W2039631657 title "Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries" @default.
• W2039631657 cites W1644997609 @default.
• W2039631657 cites W1969163051 @default.
• W2039631657 cites W1981791478 @default.
• W2039631657 cites W1981838406 @default.
• W2039631657 cites W1985184859 @default.
• W2039631657 cites W2016516887 @default.
• W2039631657 cites W2018663911 @default.
• W2039631657 cites W2025120754 @default.
• W2039631657 cites W2030957668 @default.
• W2039631657 cites W2043755321 @default.
• W2039631657 cites W2050343820 @default.
• W2039631657 cites W2057946199 @default.
• W2039631657 cites W2064483389 @default.
• W2039631657 cites W2066833606 @default.
• W2039631657 cites W2109302214 @default.
• W2039631657 cites W2112677111 @default.
• W2039631657 cites W2114751549 @default.
• W2039631657 cites W2118222215 @default.
• W2039631657 cites W2124896165 @default.
• W2039631657 cites W2127276574 @default.
• W2039631657 cites W2128793721 @default.
• W2039631657 cites W2130304414 @default.
• W2039631657 cites W2133520089 @default.
• W2039631657 cites W2135982041 @default.
• W2039631657 cites W2140937522 @default.
• W2039631657 cites W2142051316 @default.
• W2039631657 cites W2149403662 @default.
• W2039631657 cites W2150622792 @default.
• W2039631657 cites W2154184032 @default.
• W2039631657 cites W2157126085 @default.
• W2039631657 cites W2157825442 @default.
• W2039631657 cites W2158698691 @default.
• W2039631657 cites W2170554644 @default.
• W2039631657 cites W2328176404 @default.
• W2039631657 cites W2328674824 @default.
• W2039631657 cites W2406906384 @default.
• W2039631657 doi "https://doi.org/10.1186/1471-2407-12-64" @default.
• W2039631657 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3305354" @default.
• W2039631657 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22321913" @default.
• W2039631657 hasPublicationYear "2012" @default.
• W2039631657 type Work @default.
• W2039631657 sameAs 2039631657 @default.
• W2039631657 citedByCount "11" @default.
• W2039631657 countsByYear W20396316572013 @default.
• W2039631657 countsByYear W20396316572015 @default.
• W2039631657 countsByYear W20396316572016 @default.
• W2039631657 countsByYear W20396316572017 @default.
• W2039631657 countsByYear W20396316572018 @default.
• W2039631657 countsByYear W20396316572019 @default.
• W2039631657 countsByYear W20396316572020 @default.
• W2039631657 countsByYear W20396316572021 @default.
• W2039631657 crossrefType "journal-article" @default.
• W2039631657 hasAuthorship W2039631657A5013177039 @default.
• W2039631657 hasAuthorship W2039631657A5014365256 @default.
• W2039631657 hasAuthorship W2039631657A5015055376 @default.
• W2039631657 hasAuthorship W2039631657A5017856517 @default.
• W2039631657 hasAuthorship W2039631657A5018892140 @default.
• W2039631657 hasAuthorship W2039631657A5026777870 @default.
• W2039631657 hasAuthorship W2039631657A5031572358 @default.
• W2039631657 hasAuthorship W2039631657A5034740310 @default.
• W2039631657 hasAuthorship W2039631657A5038766726 @default.
• W2039631657 hasAuthorship W2039631657A5045116981 @default.
• W2039631657 hasAuthorship W2039631657A5065002716 @default.
• W2039631657 hasAuthorship W2039631657A5073747083 @default.
• W2039631657 hasBestOaLocation W20396316571 @default.
• W2039631657 hasConcept C104317684 @default.
• W2039631657 hasConcept C111425858 @default.
• W2039631657 hasConcept C134935766 @default.
• W2039631657 hasConcept C13514818 @default.
• W2039631657 hasConcept C2776559941 @default.
• W2039631657 hasConcept C2776674815 @default.
• W2039631657 hasConcept C2778677574 @default.
• W2039631657 hasConcept C2779115348 @default.
• W2039631657 hasConcept C501734568 @default.
• W2039631657 hasConcept C54355233 @default.
• W2039631657 hasConcept C60748783 @default.
• W2039631657 hasConcept C86803240 @default.
• W2039631657 hasConceptScore W2039631657C104317684 @default.
• W2039631657 hasConceptScore W2039631657C111425858 @default.
• W2039631657 hasConceptScore W2039631657C134935766 @default.
• W2039631657 hasConceptScore W2039631657C13514818 @default.
• W2039631657 hasConceptScore W2039631657C2776559941 @default.
• W2039631657 hasConceptScore W2039631657C2776674815 @default.

• next