ID

45756

Description

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.

Link

dbGaP-study=phs001153

Keywords

  1. 6/5/23 6/5/23 - Chiara Middel
Copyright Holder

Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Uploaded on

June 5, 2023

DOI

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License

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.

pht005697
Description

pht005697

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected [ENDOMETRIUM/MYOMETRIUM, MYOMETRIUM, OVARY, UTERUS, ENDOMETRIUM, UNKNOWN]
Description

BODY SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type [DNA]
Description

ANALYTE TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

IS_TUMOR

Data type

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample [Endometrioid]
Description

HISTOLOGICAL TYPE

Data type

string

Alias
UMLS CUI [1,1]
C0449475
UMLS CUI [1,2]
C0449560
UMLS CUI [1,3]
C2347026
UMLS CUI [2,1]
C2713035
UMLS CUI [2,2]
C0449560
UMLS CUI [2,3]
C2347026
Primary tumor, metastasis, or transformed cell line [PRIMARY]
Description

PRIMARY_METASTATIC_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [2,1]
C0027627
UMLS CUI [3,1]
C0007601
Primary tumor location [ENDOMETRIUM]
Description

PRIMARY TUMOR LOCATION

Data type

string

Alias
UMLS CUI [1,1]
C0475447
Name of the center which conducted sequencing [NHGRI_NISC]
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491

Similar models

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)
Data type
Alias
Item Group
pht005697
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
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])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
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])
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])
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])
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])

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