ID

45616

Description

Principal Investigator: Hanlee Ji, MD, Stanford University School of Medicine, Stanford, CA, USA MeSH: Stomach Neoplasms,Krukenberg Tumor https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001362 In this study, linked read sequencing was performed on two ovarian metastases and matched normal tissue, from a patient with primary diffuse gastric cancer. Linked read sequencing is a DNA preparation technology whereby high molecular weight molecules of DNA are uniquely barcoded prior to fragmentation and sequencing, thus retaining information about genomic contiguity. This study performed an extended analysis of linked read sequencing data to resolve the complex structures of structural variants in the cancer genomes. Complex structural rearrangements were identified in the genomic region surrounding the known oncogene FGFR2, and the association between FGFR2 and gastric cancer metastasis was demonstrated in an organoid model.

Link

dbGaP study = phs001362

Keywords

  1. 2/26/23 2/26/23 - Simon Heim
Copyright Holder

Hanlee Ji, MD, Stanford University School of Medicine, Stanford, CA, USA

Uploaded on

February 26, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001362 Linked Read Sequencing of Gastric Cancer Metastases

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

pht006345
Description

pht006345

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

SAMPLE_ID

Data type

string

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

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
UMLS CUI [1,2]
C0200345
Analyte Type
Description

ANALYTE_TYPE

Data type

string

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

IS_TUMOR

Data type

text

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

HISTOLOGICAL_TYPE

Data type

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
Primary tumor or metastasis
Description

PRIMARY_METASTATIC_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [1,2]
C0027627

Similar models

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

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht006345
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])
C0200345 (UMLS CUI [1,2])
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 tumor (N)
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])
PRIMARY_METASTATIC_TUMOR
Item
Primary tumor or metastasis
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [1,2])

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