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ID
45756
Beschrijving
Principal Investigator: Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Endometrial Neoplasms,Carcinoma, Endometrioid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001153 The purpose of this study was to identify somatic (tumor-specific) mutations in advanced stage endometrioid endometrial carcinoma tumor exomes. The dataset was generated at the NIH Intramural Sequencing Center (NISC) and NHGRI by next generation sequencing the exomes of 19 de-identified primary tumor DNAs, from advanced stage tumors, and matched non-tumor DNAs.
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- 05/06/23 05/06/23 - Chiara Middel
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Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
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5 giugno 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001153 Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma
Sample ID, analyte type, body site where sample was obtained, histological type of sample, tumor status of sample, primary tumor location, primary or metastatic tumor, and sequencing center of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Sample ID, subject ID, and sample use variable obtained from participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Subject ID and gender of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Sample ID, analyte type, body site where sample was obtained, histological type of sample, tumor status of sample, primary tumor location, primary or metastatic tumor, and sequencing center of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
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Sample ID, analyte type, body site where sample was obtained, histological type of sample, tumor status of sample, primary tumor location, primary or metastatic tumor, and sequencing center of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Sample ID, subject ID, and sample use variable obtained from participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Subject ID and gender of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
- Sample ID, analyte type, body site where sample was obtained, histological type of sample, tumor status of sample, primary tumor location, primary or metastatic tumor, and sequencing center of participants with endometrioid endometrial carcinoma and involved in the "Somatic Mutational Analysis by Exome Sequencing Late-Stage Endometrioid Endometrial Carcinoma" project.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
C1299222 (UMLS CUI [1,2])
BODY SITE
Item
Body site where sample was collected [ENDOMETRIUM/MYOMETRIUM, MYOMETRIUM, OVARY, UTERUS, ENDOMETRIUM, UNKNOWN]
string
C0449705 (UMLS CUI [1,1])
ANALYTE TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
CL Item
Is tumor (Y)
C0027651 (UMLS CUI [1,1])
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
C1518422 (UMLS CUI [1,2])
HISTOLOGICAL TYPE
Item
Cell or tissue type or subtype of sample [Endometrioid]
string
C0449475 (UMLS CUI [1,1])
C0449560 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
C2713035 (UMLS CUI [2,1])
C0449560 (UMLS CUI [2,2])
C2347026 (UMLS CUI [2,3])
C0449560 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
C2713035 (UMLS CUI [2,1])
C0449560 (UMLS CUI [2,2])
C2347026 (UMLS CUI [2,3])
PRIMARY_METASTATIC_TUMOR
Item
Primary tumor, metastasis, or transformed cell line [PRIMARY]
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
PRIMARY TUMOR LOCATION
Item
Primary tumor location [ENDOMETRIUM]
string
C0475447 (UMLS CUI [1,1])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing [NHGRI_NISC]
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
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