Matches in SemOpenAlex for { <https://semopenalex.org/work/W2758326850> ?p ?o ?g. }
Showing items 1 to 64 of
64
with 100 items per page.
- W2758326850 abstract "Colorectal cancer is the second cause of death in the world and genomic alteration plays an important role in this disease. Much of the underlying genetic ???Cancer Driver??? mutations/variants in sporadic colorectal cancer (CRC) have not been characterized by race. Here, we report the identification of distinct novel variants from CRC patients in mismatch repair (MMR) genes MSH2, MHS3, MSH6 and APC. We developed a panel of 20 frequently altered colon cancer genes for targeted sequencing in 138 colon tissues using next generation sequencing to examine 98.8% of the targeted exons and splice junctions at a depth of sequencing that allowed for high confidence variant calling. After alignment and variant calling, we annotated the variants with information from the 1000 Genomes Project, Catalogue of Somatic Mutations in Cancer (COSMIC), Polymorphism Phenotyping v2 (PolyPhen-2) and PFAM domain and transcription factor motifs. Excluding synonymous SNVs, 212 deleterious variants in adenoma, 760 in advanced adenoma and 2624 variants in tumors were detected. Novel variants (1591 and 1363) were found in MMR genes (MSH6 and MSH3) and APC gene, respectively. These findings further highlight the relevance of APC gene in CRC onset but also the potential underestimation of the MSI-H in sporadic CRC as many of the novel mutations so called ???uncertain significance??? in MMR genes detected here were of a deleterious nature with a therapeutic interest." @default.
- W2758326850 created "2017-10-06" @default.
- W2758326850 creator A5083409124 @default.
- W2758326850 date "2017-01-01" @default.
- W2758326850 modified "2023-09-27" @default.
- W2758326850 title "How can clinician be precise in era of precision medicine? Case of colon cancer" @default.
- W2758326850 doi "https://doi.org/10.4172/2161-069x-c1-051" @default.
- W2758326850 hasPublicationYear "2017" @default.
- W2758326850 type Work @default.
- W2758326850 sameAs 2758326850 @default.
- W2758326850 citedByCount "0" @default.
- W2758326850 crossrefType "journal-article" @default.
- W2758326850 hasAuthorship W2758326850A5083409124 @default.
- W2758326850 hasConcept C104317684 @default.
- W2758326850 hasConcept C111425858 @default.
- W2758326850 hasConcept C121608353 @default.
- W2758326850 hasConcept C2776559941 @default.
- W2758326850 hasConcept C2776674815 @default.
- W2758326850 hasConcept C2779115348 @default.
- W2758326850 hasConcept C526805850 @default.
- W2758326850 hasConcept C54355233 @default.
- W2758326850 hasConcept C60644358 @default.
- W2758326850 hasConcept C60748783 @default.
- W2758326850 hasConcept C71924100 @default.
- W2758326850 hasConcept C86803240 @default.
- W2758326850 hasConceptScore W2758326850C104317684 @default.
- W2758326850 hasConceptScore W2758326850C111425858 @default.
- W2758326850 hasConceptScore W2758326850C121608353 @default.
- W2758326850 hasConceptScore W2758326850C2776559941 @default.
- W2758326850 hasConceptScore W2758326850C2776674815 @default.
- W2758326850 hasConceptScore W2758326850C2779115348 @default.
- W2758326850 hasConceptScore W2758326850C526805850 @default.
- W2758326850 hasConceptScore W2758326850C54355233 @default.
- W2758326850 hasConceptScore W2758326850C60644358 @default.
- W2758326850 hasConceptScore W2758326850C60748783 @default.
- W2758326850 hasConceptScore W2758326850C71924100 @default.
- W2758326850 hasConceptScore W2758326850C86803240 @default.
- W2758326850 hasLocation W27583268501 @default.
- W2758326850 hasOpenAccess W2758326850 @default.
- W2758326850 hasPrimaryLocation W27583268501 @default.
- W2758326850 hasRelatedWork W1525922215 @default.
- W2758326850 hasRelatedWork W2081902090 @default.
- W2758326850 hasRelatedWork W2127777334 @default.
- W2758326850 hasRelatedWork W2139694192 @default.
- W2758326850 hasRelatedWork W2270483250 @default.
- W2758326850 hasRelatedWork W2433099156 @default.
- W2758326850 hasRelatedWork W2461906200 @default.
- W2758326850 hasRelatedWork W2617560881 @default.
- W2758326850 hasRelatedWork W2654749154 @default.
- W2758326850 hasRelatedWork W2738417397 @default.
- W2758326850 hasRelatedWork W2921913916 @default.
- W2758326850 hasRelatedWork W2949202382 @default.
- W2758326850 hasRelatedWork W2976602835 @default.
- W2758326850 hasRelatedWork W3011032680 @default.
- W2758326850 hasRelatedWork W3017069486 @default.
- W2758326850 hasRelatedWork W3029986494 @default.
- W2758326850 hasRelatedWork W3048516148 @default.
- W2758326850 hasRelatedWork W3088107659 @default.
- W2758326850 hasRelatedWork W3112902477 @default.
- W2758326850 hasRelatedWork W3193155887 @default.
- W2758326850 isParatext "false" @default.
- W2758326850 isRetracted "false" @default.
- W2758326850 magId "2758326850" @default.
- W2758326850 workType "article" @default.