FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000569716> ?p ?o ?g. }

• W2000569716 abstract "Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, ILColorectal cancer (CRC) represents the fourth leading cause of cancer mortality. Approximately 30% of all CRC cases have a hereditary component, but only 5% are associated with inherited mutations in known genes. The most common hereditary syndrome of CRC is the Lynch syndrome (LS) and is caused by mutations in mismatch repair genes, mainly MLH1 and MSH2. In ∼50% of families classified with the Amsterdam criteria not show germline mutations in mismatch repair genes, suggesting that other genetic factors are associated with predisposition to CRC. In this study, it was evaluated germline copy number alterations (CNAs) in 57 LS patients without pathogenic mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS1 and PMS2), as well as in CHEK2 and TP53, by array comparative genomic hybridization (aCGH) using a platform of 4x180K (Agilent). Genomic data were extracted with Feature Extraction software and analyzed using Nexus 6.0 software, statistical algorithm FASST2 Segmentation and sensitivity threshold of 5.0E-6. The aCGH data showed a total of 361 CNAs (in average, 6.3±3.8 CNA/individual) including 144 gains and 217 genomic losses. After the comparison with a reference dataset obtained from 100 healthy Brazilian individuals (Krepischi et al, 2011; personal communication) and exclusion of the CNAs detected in more than 5% of this reference dataset, it was identified ∼100 rare CNAs. Most of them were detected in only one case, however, six CNAs were common at least in five cases: 1p11.2, 1p36.32, 7p22.3, 8q24.3, 9p11.2 and 18q11.1. The ROCK1 gene, mapped on 18q11.1, was found as involved in nine cases (three losses and six gains). This gene was associated with carcinogenesis and progression of human tumors, including colon cancer (Nakashima et al, Int J Oncol. 36:585, 2010). Amplification on 7p22.3 (5 cases), where is mapped the homeobox gene UNCX, a transcription factor involved in somitogenesis and neurogenesis. Mutations in rare constitutional CNAs may affect genes or major pathways associated with cancer, offering an explanation for families with high cancer risk. In CRC, the large scale analysis of germline CNAs in patients and their relatives can allow the identification of new genes involved in tumor predisposition. Financial support: FAPESP and CNPqCitation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 1665. doi:1538-7445.AM2012-1665" @default.
• W2000569716 created "2016-06-24" @default.
• W2000569716 creator A5000219779 @default.
• W2000569716 creator A5005448393 @default.
• W2000569716 creator A5026777870 @default.
• W2000569716 creator A5047331940 @default.
• W2000569716 creator A5052753948 @default.
• W2000569716 creator A5053953699 @default.
• W2000569716 creator A5082624578 @default.
• W2000569716 date "2012-04-15" @default.
• W2000569716 modified "2023-09-30" @default.
• W2000569716 title "Abstract 1665: High resolution genome profile in familial colorectal cases without mutations on mismatch repair genes" @default.
• W2000569716 doi "https://doi.org/10.1158/1538-7445.am2012-1665" @default.
• W2000569716 hasPublicationYear "2012" @default.
• W2000569716 type Work @default.
• W2000569716 sameAs 2000569716 @default.
• W2000569716 citedByCount "0" @default.
• W2000569716 crossrefType "proceedings-article" @default.
• W2000569716 hasAuthorship W2000569716A5000219779 @default.
• W2000569716 hasAuthorship W2000569716A5005448393 @default.
• W2000569716 hasAuthorship W2000569716A5026777870 @default.
• W2000569716 hasAuthorship W2000569716A5047331940 @default.
• W2000569716 hasAuthorship W2000569716A5052753948 @default.
• W2000569716 hasAuthorship W2000569716A5053953699 @default.
• W2000569716 hasAuthorship W2000569716A5082624578 @default.
• W2000569716 hasConcept C104317684 @default.
• W2000569716 hasConcept C111425858 @default.
• W2000569716 hasConcept C121608353 @default.
• W2000569716 hasConcept C124942203 @default.
• W2000569716 hasConcept C13514818 @default.
• W2000569716 hasConcept C141231307 @default.
• W2000569716 hasConcept C141496672 @default.
• W2000569716 hasConcept C2776071976 @default.
• W2000569716 hasConcept C2776559941 @default.
• W2000569716 hasConcept C2776674815 @default.
• W2000569716 hasConcept C2778677574 @default.
• W2000569716 hasConcept C2779115348 @default.
• W2000569716 hasConcept C2780265364 @default.
• W2000569716 hasConcept C501734568 @default.
• W2000569716 hasConcept C526805850 @default.
• W2000569716 hasConcept C54355233 @default.
• W2000569716 hasConcept C60748783 @default.
• W2000569716 hasConcept C71924100 @default.
• W2000569716 hasConcept C86803240 @default.
• W2000569716 hasConceptScore W2000569716C104317684 @default.
• W2000569716 hasConceptScore W2000569716C111425858 @default.
• W2000569716 hasConceptScore W2000569716C121608353 @default.
• W2000569716 hasConceptScore W2000569716C124942203 @default.
• W2000569716 hasConceptScore W2000569716C13514818 @default.
• W2000569716 hasConceptScore W2000569716C141231307 @default.
• W2000569716 hasConceptScore W2000569716C141496672 @default.
• W2000569716 hasConceptScore W2000569716C2776071976 @default.
• W2000569716 hasConceptScore W2000569716C2776559941 @default.
• W2000569716 hasConceptScore W2000569716C2776674815 @default.
• W2000569716 hasConceptScore W2000569716C2778677574 @default.
• W2000569716 hasConceptScore W2000569716C2779115348 @default.
• W2000569716 hasConceptScore W2000569716C2780265364 @default.
• W2000569716 hasConceptScore W2000569716C501734568 @default.
• W2000569716 hasConceptScore W2000569716C526805850 @default.
• W2000569716 hasConceptScore W2000569716C54355233 @default.
• W2000569716 hasConceptScore W2000569716C60748783 @default.
• W2000569716 hasConceptScore W2000569716C71924100 @default.
• W2000569716 hasConceptScore W2000569716C86803240 @default.
• W2000569716 hasLocation W20005697161 @default.
• W2000569716 hasOpenAccess W2000569716 @default.
• W2000569716 hasPrimaryLocation W20005697161 @default.
• W2000569716 hasRelatedWork W1889774694 @default.
• W2000569716 hasRelatedWork W1946628128 @default.
• W2000569716 hasRelatedWork W1992655263 @default.
• W2000569716 hasRelatedWork W2010436865 @default.
• W2000569716 hasRelatedWork W2030063059 @default.
• W2000569716 hasRelatedWork W2031918163 @default.
• W2000569716 hasRelatedWork W2051770834 @default.
• W2000569716 hasRelatedWork W2075464225 @default.
• W2000569716 hasRelatedWork W2087781059 @default.
• W2000569716 hasRelatedWork W2253567178 @default.
• W2000569716 hasRelatedWork W2338481957 @default.
• W2000569716 hasRelatedWork W2397837630 @default.
• W2000569716 hasRelatedWork W2495673209 @default.
• W2000569716 hasRelatedWork W2583861178 @default.
• W2000569716 hasRelatedWork W2604602906 @default.
• W2000569716 hasRelatedWork W2741961179 @default.
• W2000569716 hasRelatedWork W2913401020 @default.
• W2000569716 hasRelatedWork W2937761669 @default.
• W2000569716 hasRelatedWork W2951968626 @default.
• W2000569716 hasRelatedWork W3009785024 @default.
• W2000569716 isParatext "false" @default.
• W2000569716 isRetracted "false" @default.
• W2000569716 magId "2000569716" @default.
• W2000569716 workType "article" @default.