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, study for which samples were generated, and consent group 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.

pht005500
Description

pht005500

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Case control status of the subject
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646
Consent group as determined by DAC, multiple values separated by ","
Description

CONSENT

Data type

string

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Study sample was genotyped for
Description

STUDY

Data type

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1285573

Similar models

Subject ID, study for which samples were generated, and consent group 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
pht005500
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (0)
C3274648 (UMLS CUI [1,1])
CL Item
Case (1)
C3274647 (UMLS CUI [1,1])
Item
Consent group as determined by DAC, multiple values separated by ","
string
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC, multiple values separated by ","
CL Item
General Research Use (MDS) (GRU-MDS) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
General Research Use (COL, MDS) (GRU-COL-MDS) (2)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Cancer) (DS-CA) (3)
CL Item
Disease-Specific (Endometrial Carcinoma, MDS) (DS-EC-MDS) (4)
CL Item
Disease-Specific (Endometrial Diseases, MDS) (DS-ENDOMETRIAL-MDS) (5)
CL Item
Disease-Specific (Breast, Ovarian, or Endometrial Disease, MDS) (DS-BOED-MDS) (6)
CL Item
Disease-Specific (Chronic Diseases) (DS-CHRONIC) (7)
CL Item
Cancer in all age groups, other disease in adults only and methods (CADM) (8)
CL Item
Health/Medical/Biomedical (PUB, NPU, MDS, GSO) (HMB-PUB-NPU-MDS-GSO) (9)
Item
Study sample was genotyped for
string
C2347026 (UMLS CUI [1,1])
C1285573 (UMLS CUI [1,2])
Code List
Study sample was genotyped for
CL Item
Exome-wide Association Study (Exome)
CL Item
Genome-wide Association study (GWAS)

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