ID

45826

Descripción

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.

Link

dbGaP study = phs001044

Palabras clave

  1. 29/7/23 29/7/23 - Simon Heim
Titular de derechos de autor

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

Subido en

29 de julio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs001044 Breast Cancer Risk Pathways

This subject phenotype table contains subject ID, whether the subject had developed cancer, age when blood sample was collected, mutated gene, and gene expression identifier.

pht005274
Descripción

pht005274

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Descripción

SUBJECT_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Whether the subject had developed cancer
Descripción

developed_cancer

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0006826
Age when blood sample was collected
Descripción

age

Tipo de datos

text

Unidades de medida
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0200345
UMLS CUI [1,3]
C0005767
years
Gene in which a known pathogenic variant had been identified
Descripción

mutated_gene

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3816499
UMLS CUI [1,2]
C0017337
Identifier that indicates sample ID for gene-expression data in GEO
Descripción

gene_expression_id

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0017262
UMLS CUI [1,3]
C0242356

Similar models

This subject phenotype table contains subject ID, whether the subject had developed cancer, age when blood sample was collected, mutated gene, and gene expression identifier.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht005274
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
developed_cancer
Item
Whether the subject had developed cancer
boolean
C0006826 (UMLS CUI [1,1])
age
Item
Age when blood sample was collected
text
C0001779 (UMLS CUI [1,1])
C0200345 (UMLS CUI [1,2])
C0005767 (UMLS CUI [1,3])
mutated_gene
Item
Gene in which a known pathogenic variant had been identified
string
C3816499 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
gene_expression_id
Item
Identifier that indicates sample ID for gene-expression data in GEO
string
C1299222 (UMLS CUI [1,1])
C0017262 (UMLS CUI [1,2])
C0242356 (UMLS CUI [1,3])

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