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, sample ID, and sample use variable obtained from 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.

pht005501
Description

pht005501

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

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject ID, sample ID, and sample use variable obtained from 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
pht005501
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
SNP genotypes obtained using standard or custom microarrays (Array_SNP)
C2347026 (UMLS CUI [1,1])
C0042153 (UMLS CUI [1,2])
C0752046 (UMLS CUI [1,3])
C1449575 (UMLS CUI [1,4])

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