ID
45791
Description
Principal Investigator: Dong Shen, MD PhD, Medimmune, Gaithersburg, MD, USA MeSH: Small Cell Lung Carcinoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001083 Small cell lung cancer (SCLC) is an aggressive disease with poor survival. A few sequencing studies performed on limited number of samples have revealed potential disease-driving genes in SCLC, however, much still remains unknown, particularly in the Asian patient population. Here we conducted whole exome sequencing (WES) and transcriptomic sequencing of primary tumors from 99 Chinese SCLC patients. Dysregulation of tumor suppressor genes TP53 and RB1 was observed in 82% and 62% of SCLC patients, respectively, and more than half of the SCLC patients (62%) harbored TP53 and RB1 mutation and/or copy number loss. Additionally, Serine/Arginine Splicing Factor 1 (SRSF1) DNA copy number gain and mRNA over-expression was strongly associated with poor survival using both discovery and validation patient cohorts. Functional studies in vitro and in vivo demonstrate that SRSF1 is important for tumorigenicity of SCLC and may play a key role in DNA repair and chemo-sensitivity. These results strongly support SRSF1 as a prognostic biomarker in SCLC and provide a rationale for personalized therapy in SCLC. The manuscript has been accepted by Plos Genetics.
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Versions (1)
- 6/22/23 6/22/23 - Chiara Middel
Copyright Holder
Dong Shen, MD PhD, Medimmune, Gaithersburg, MD, USA
Uploaded on
June 22, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001083 99 Cases of Small Cell Lung Cancer Study
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
- Subject ID, sample ID, and sample use variable of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
- Sample ID, body site where samples were obtained, analyte type, tumor status of samples, histological type of samples, primary, metastasis, of transformed cell line, primary tumor location, tumor stage of sample, tumor grade of sample, type of tumor treatment of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
- Subject ID, sample ID, and sample use variable of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
- Sample ID, body site where samples were obtained, analyte type, tumor status of samples, histological type of samples, primary, metastasis, of transformed cell line, primary tumor location, tumor stage of sample, tumor grade of sample, type of tumor treatment of participants with small cell lung cancer and involved in the "99 Cases of Small Cell Lung Cancer Study" project.
C0680251 (UMLS CUI [1,2])
C1706256 (UMLS CUI [1,2])
C0242802 (UMLS CUI [1,3])
C1265611 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C0677930 (UMLS CUI [2,3])
C1511726 (UMLS CUI [2,4])
C1265611 (UMLS CUI [3,1])
C1706256 (UMLS CUI [3,2])
C0205307 (UMLS CUI [3,3])
C1292533 (UMLS CUI [3,4])