ID

45975

Description

Principal Investigator: Immaculata De Vivo, PhD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and Harvard TH Chan School of Public Health, Boston, MA, USA MeSH: Carcinoma, Endometrioid,Endometrial Neoplasms,Uterine Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000893 Endometrial cancer, the most common gynecological malignancy in the United States, has both an environmental and genetic component. To this end, we conducted a genome-wide association study to identify genes involved in endometrial cancer using studies from the NCI-supported Epidemiology of Endometrial Cancer Consortium (E2C2). For the discovery stage we included samples from 6 cohort and 7 case control studies through 2007. The total number of cases genotyped were 2,307, white women of European descent, and 2,307 matched controls using the Illumina HumanOmniExpress platform. We conducted the replication using the Infinium HumanExome BeadChip, which successfully genotyped 177,139 variants in 1055 cases and 1778 controls from four ethnically diverse studies that are part of the Epidemiology of Endometrial Cancer Consortium (E2C2). The overall goal is to determine whether certain genotypes are predictive of future endometrial cancer risk, and whether the genotypes interact with established endometrial risk factors.

Link

dbGaP study=phs000893

Keywords

  1. 4/2/24 4/2/24 - Madita Rudolph
Copyright Holder

Immaculata De Vivo, PhD, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA and Harvard TH Chan School of Public Health, Boston, MA, USA

Uploaded on

April 2, 2024

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000893 Genome-Wide Association Study of Endometrial Cancer in E2C2

Subject ID, disease status, age at diagnosis, and principal component 1-4 of participants with or without endometrial cancer and involved in the "Genome-Wide Association Study of Endometrial Cancer in the Epidemiology of Endometrial Cancer Consortium (E2C2)" project.

pht005503
Description

pht005503

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

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Disease status
Description

CACO

Data type

text

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0449438
Study from which the sample originated
Description

STUDY

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C2347026
Age at diagnosis for cases, age at diagnosis for matched case(s) for controls
Description

AGE

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1828181
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1828181
UMLS CUI [2,3]
C0150103
UMLS CUI [2,4]
C1706256
Years
Principal component 1
Description

PC1

Data type

float

Alias
UMLS CUI [1,1]
C1882460
Principal component 2
Description

PC2

Data type

float

Alias
UMLS CUI [1,1]
C1882460
Principal component 3
Description

PC3

Data type

float

Alias
UMLS CUI [1,1]
C1882460
Principal component 4
Description

PC4

Data type

float

Alias
UMLS CUI [1,1]
C1882460

Similar models

Subject ID, disease status, age at diagnosis, and principal component 1-4 of participants with or without endometrial cancer and involved in the "Genome-Wide Association Study of Endometrial Cancer in the Epidemiology of Endometrial Cancer Consortium (E2C2)" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005503
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
CACO
Item
Disease status
text
C0012634 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
Item
Study from which the sample originated
string
C0449416 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])
Code List
Study from which the sample originated
CL Item
Alberta Health Services Study (ALBERTA)
CL Item
Estrogen, Diet, Genetics and Endometrial Cancer Study (EDGE)
CL Item
Fred Hutchinson Cancer Research Center Study (FHCRC)
CL Item
Multiethnic Cohort (MEC)
AGE
Item
Age at diagnosis for cases, age at diagnosis for matched case(s) for controls
text
C1706256 (UMLS CUI [1,1])
C1828181 (UMLS CUI [1,2])
C0009932 (UMLS CUI [2,1])
C1828181 (UMLS CUI [2,2])
C0150103 (UMLS CUI [2,3])
C1706256 (UMLS CUI [2,4])
PC1
Item
Principal component 1
float
C1882460 (UMLS CUI [1,1])
PC2
Item
Principal component 2
float
C1882460 (UMLS CUI [1,1])
PC3
Item
Principal component 3
float
C1882460 (UMLS CUI [1,1])
PC4
Item
Principal component 4
float
C1882460 (UMLS CUI [1,1])

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