ID

45975

Beschrijving

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

Trefwoorden

  1. 02-04-24 02-04-24 - Madita Rudolph
Houder van rechten

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

Geüploaded op

2 april 2024

DOI

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Licentie

Creative Commons BY 4.0

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

Sample ID, body site, analyte type, and tumor status of samples 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.

pht005504
Beschrijving

pht005504

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

SAMPLE_ID

Datatype

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected [BLOOD, BUCCAL]
Beschrijving

BODY_SITE

Datatype

string

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

ANALYTE_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C4744818
UMLS CUI [1,2]
C0012854
Tumor status
Beschrijving

IS_TUMOR

Datatype

text

Alias
UMLS CUI [1,1]
C0475752

Similar models

Sample ID, body site, analyte type, and tumor status of samples 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)
Datatype
Alias
Item Group
pht005504
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 [BLOOD, BUCCAL]
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (NO)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])

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