ID
45548
Description
Principal Investigator: Matthew Meyerson, MD,PhD, Dana Farber Cancer Institute, Boston MA, USA MeSH: Uterine Cervical Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000600 Cervical cancer is responsible for 10-15% of cancer related deaths in women worldwide. The etiological role of infection with high-risk human papilloma viruses (HPV) in carcinomas of the cervix is well established. In general, the development of cervical carcinomas follows a progression from persistent HPV infection through precancerous lesions to invasive cancer. Previous studies have implicated somatic mutations in PIK3CA, PTEN, TP53, STK11 and KRAS as well as chromosome-arm level copy number alterations in the pathogenesis of cervical carcinomas. Here, we report whole exome sequencing analysis of 118 cervical carcinoma-normal paired samples from patients in Norway and Mexico, as well as transcriptome sequencing of 80 cases and whole genome sequencing of 13 tumor-normal pairs. Novel somatic mutations include recurrent E322K substitutions in the MAPK1 gene encoding the ERK2 kinase and inactivating mutations in the HLA-B gene. In addition, recurrent somatic mutations in FBXW7, EP300, and NFE2L2 are novel in the context of primary cervical carcinomas. Analysis of HPV integration sites revealed recurrent integration into the RAD51B locus as well as co-occurrence of HPV genome integration and copy number gains within several genomic loci. These findings shed new light on the pathogenesis of cervical carcinomas and suggest potential novel therapeutic targets.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000600
Keywords
Versions (1)
- 1/9/23 1/9/23 - Dr. med. Lucy Kessler
Copyright Holder
Matthew Meyerson, MD,PhD, Dana Farber Cancer Institute, Boston MA, USA
Uploaded on
January 9, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000600 Genomic Sequencing of Cervical Cancers
Sample ID, analyte type, body site where sample was obtained, tumor status of sample [tumor or normal tissue], sample type [primary tumor, metastasis, or transformed cell line], histological type of tumor, tumor grade of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use of sample obtained from participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Subject ID, age, sex, primary disease, geographical site of sample collection, and smoking status of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Sample ID, analyte type, body site where sample was obtained, tumor status of sample [tumor or normal tissue], sample type [primary tumor, metastasis, or transformed cell line], histological type of tumor, tumor grade of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
Similar models
Sample ID, analyte type, body site where sample was obtained, tumor status of sample [tumor or normal tissue], sample type [primary tumor, metastasis, or transformed cell line], histological type of tumor, tumor grade of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use of sample obtained from participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Subject ID, age, sex, primary disease, geographical site of sample collection, and smoking status of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
- Sample ID, analyte type, body site where sample was obtained, tumor status of sample [tumor or normal tissue], sample type [primary tumor, metastasis, or transformed cell line], histological type of tumor, tumor grade of participants with cervical cancer and involved in the "Genomic Sequencing of Cervical Cancers" project.
C1299222 (UMLS CUI [1,2])
C1882508 (UMLS CUI [1,2])
C0027651 (UMLS CUI [1,2])
C0027651 (UMLS CUI [1,2])