ID

45826

Description

Principal Investigator: Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001044 We sought to identify genomic variants that differed between individuals who developed familial breast cancer and individuals who had a family history of breast cancer but who had not developed breast cancer. We aggregated these data at the pathway level to identify pathways that play a role in familial breast cancer development. We profiled peripheral blood cells, extracted DNA, and sequenced the DNA using exome-capture sequencing to identify genomic variants in these samples. For 34 of the 35 samples, we also profiled peripheral blood using Affymetrix Human Exon 1.0 ST Array microarrays. Those data can be found in Gene Expression Omnibus under accession identifier GSE47862.

Lien

dbGaP study = phs001044

Mots-clés

  1. 29/07/2023 29/07/2023 - Simon Heim
Détendeur de droits

Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA

Téléchargé le

29 juillet 2023

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

Modèle Commentaires :

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dbGaP phs001044 Breast Cancer Risk Pathways

This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.

pht005275
Description

pht005275

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

SAMPLE_ID

Type de données

string

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

BODY_SITE

Type de données

string

Alias
UMLS CUI [1,1]
C0449705
Analyte Type
Description

ANALYTE_TYPE

Type de données

string

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

IS_TUMOR

Type de données

text

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

HISTOLOGICAL_TYPE

Type de données

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560

Similar models

This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and histological type.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005275
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
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Is Tumor (Y)
C0027651 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])

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