| http://purl.uniprot.org/citations/34993672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34993672 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundEsophageal squamous cell carcinoma (ESCC) has a poor prognosis and occurs with high frequency in China. In particular, Fujian is one of the high-incidence areas of ESCC in China and the somatic mutation profile of ESCC there remains unclear.Patients and methodsWhole-exome sequencing (WES) was performed in 49 matched ESCC tumor-normal specimens to examine the somatic mutation profiles. Hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between mutational profile and survival were derived from Cox regression model.ResultsWe constructed a preliminary somatic mutation profiling of ESCC in Fujian. Exome sequencing data showed that the main base substitutions in ESCC were C > T transformation (close to 50%), C > A and T > C transversion. The study identified 21 significantly mutated genes, including 8 driver genes and 11 predicted driver genes. Among the 19 driver or predicted driver genes, 9 are novel (OBSCN, PKHD1L1, FSIP2, HRNR, CUBN, CELSR3, SCN7A, TULP4, SRRM2) and 10 have been previously reported. Three mutational signatures were identified to be prevalent in ESCC including Signature_15, Signature_4 and Signature_6, of which Signature_15 was related to prognosis of ESCC (HR 2.81, 95% CI 1.30-6.05; p = 0.008). Survival analysis showed that SCN7A was correlated to overall survival with an HR of 2.76 (95% CI 0.96-7.90, p = 0.058). After controlling for confounding factors such as age, gender, stage and location, the correlation between SCN7A and survival was statistically significant based on multivariate COX regression analysis (HR 4.76, 95% CI 1.20-18.85; p = 0.026, padjust = 0.053). The tumor vascular invasion was associated with SCN7A of ESCC patients (p = 0.028).ConclusionIn summary, this study provided comprehensive analysis of the somatic mutation profiles of ESCC, and identified SCN7A and Signature_15 for the prognosis of ESCC for the first time. The findings might serve as a conceptual basis for molecular diagnosis and prevention of ESCC."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10388-021-00898-y"xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Lin X."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Liu S."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Hu Z."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Lin Z."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Wu C."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Ye W."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Yuan P."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Lin X.'"xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/author | "Rao W."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/name | "Esophagus"xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/pages | "303-315"xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/title | "Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma."xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://purl.uniprot.org/core/volume | "19"xsd:string |
| http://purl.uniprot.org/citations/34993672 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34993672 |
| http://purl.uniprot.org/citations/34993672 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34993672 |
| http://purl.uniprot.org/uniprot/#_Q16278-mappedCitation-34993672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34993672 |
| http://purl.uniprot.org/uniprot/#_Q01118-mappedCitation-34993672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34993672 |
| http://purl.uniprot.org/uniprot/Q01118 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/34993672 |
| http://purl.uniprot.org/uniprot/Q16278 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/34993672 |