ID

45545

Descrição

Principal Investigator: David A. Wheeler, PhD, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA MeSH: Neoplasms,Brain Neoplasms,Germinoma,Neoplasms, Germ Cell and Embryonal,Endodermal Sinus Tumor,Teratoma,Carcinoma, Embryonal,Choriocarcinoma,Polycythemia Vera,Craniopharyngioma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000725 A large proportion of common cancers affecting patients around the world have been selected for comprehensive cancer genome studies. Further efforts will be needed to tackle the remaining tumor types, including the rare forms of cancers. Although rare, these cancers tend to be more aggressive and fast growing with an early recurrence following initial chemotherapy and poor prognosis. Besides, patients diagnosed with rare cancers may have difficulty finding a physician knowledgeable in treating their type of cancer. While sample collection is a major challenge, the integrated genomic analyses would identify novel causative genes in these rare cancers, shed new light on the biology of the rare cancers, as well as guide novel targeted cancer therapies. Through efficient collaboration, the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine (BCM) has collected/is expected to collect 20 different types of rare cancers, 15-30 cases each. Whole-exome sequencing and high-resolution SNP array analysis were/will be performed for all cases and whole-genome sequencing was designed for a selected subset of the cases. *The Rare Cancer Tumors Cohort is utilized in the following dbGaP sub-studies.* To view genotypes, other molecular data, and derived variables collected in this sub-study, please click on the following sub-study below or in the "Sub-studies" section of this top-level study page phs000725 Rare Cancer Tumors Cohort.- phs000754 Intracranial Germ Cell Tumors - phs000861 Craniopharyngioma Tumors - phs000859 Sezary Syndrome Genomic Analysis

Link

dbGaP-study=phs000725

Palavras-chave

  1. 06/01/2023 06/01/2023 - Chiara Middel
Titular dos direitos

David A. Wheeler, PhD, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA

Transferido a

6 de janeiro de 2023

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000725 Rare Cancer Tumors Project

Sample ID, analyte type, body site where sample was obtained, sequencing center, tumor specimen, and tumor status of sample of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, affection status, consent group, subject source, and source subject ID of participants with or without rare cancer tumors and involved in the "Rare Cancer Tumors Project" project.
    3. Subject ID, sample ID, sample source, source sample ID, study accession ID, and sample use variable obtained from participants with or without rare cancer tumors and involved in the "Rare Cancer Tumors Project" project.
    4. Subject ID, age, gender of participants with or without intracranial germ cell tumors and involve in the "Whole-exome Sequencing of Intracranial Germ Cell Tumors performed at Human Genome Sequencing Center, Baylor College of Medicine" project.
    5. Sample ID, analyte type, body site, and histological type of tumors of participants with or without intracranial germ cell tumors and involve in the "Whole-exome Sequencing of Intracranial Germ Cell Tumors performed at Human Genome Sequencing Center, Baylor College of Medicine" project.
    6. Subject ID, age, gender, and race of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.
    7. Sample ID, analyte type, body site where sample was obtained, sequencing center, tumor specimen, and tumor status of sample of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.
    8. Subject ID, gender, diagnosis age, race, and study stage of participants with or without Sezary Syndrome and involved in the "Integrated Genomic Analysis of Sezary Syndrome at the Human Genome Sequencing Center, Baylor College of Medicine" project.
    9. Sample ID, analyte type, body site where sample was obtained, sequences center, and tumor status of sample obtained from participants with or without Sezary Syndrome and involved in the "Integrated Genomic Analysis of Sezary Syndrome at the Human Genome Sequencing Center, Baylor College of Medicine" project.
pht004476
Descrição

pht004476

Alias
UMLS CUI [1,1]
C3846158
Body site where sample was collected
Descrição

BODY_SITE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Descrição

ANALYTE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4744818
Tumor specimen extraction stage
Descrição

TUMOR_SPECIMEN

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475358
UMLS CUI [1,2]
C0185115
UMLS CUI [1,3]
C0699749
Tumor status
Descrição

IS_TUMOR

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475752
Name of the center which conducted sequencing
Descrição

SEQUENCING_CENTER

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
De-identified sample ID
Descrição

SAMPLE_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222

Similar models

Sample ID, analyte type, body site where sample was obtained, sequencing center, tumor specimen, and tumor status of sample of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, affection status, consent group, subject source, and source subject ID of participants with or without rare cancer tumors and involved in the "Rare Cancer Tumors Project" project.
    3. Subject ID, sample ID, sample source, source sample ID, study accession ID, and sample use variable obtained from participants with or without rare cancer tumors and involved in the "Rare Cancer Tumors Project" project.
    4. Subject ID, age, gender of participants with or without intracranial germ cell tumors and involve in the "Whole-exome Sequencing of Intracranial Germ Cell Tumors performed at Human Genome Sequencing Center, Baylor College of Medicine" project.
    5. Sample ID, analyte type, body site, and histological type of tumors of participants with or without intracranial germ cell tumors and involve in the "Whole-exome Sequencing of Intracranial Germ Cell Tumors performed at Human Genome Sequencing Center, Baylor College of Medicine" project.
    6. Subject ID, age, gender, and race of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.
    7. Sample ID, analyte type, body site where sample was obtained, sequencing center, tumor specimen, and tumor status of sample of participants with or without craniopharyngioma tumors and involved in the "Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine" project.
    8. Subject ID, gender, diagnosis age, race, and study stage of participants with or without Sezary Syndrome and involved in the "Integrated Genomic Analysis of Sezary Syndrome at the Human Genome Sequencing Center, Baylor College of Medicine" project.
    9. Sample ID, analyte type, body site where sample was obtained, sequences center, and tumor status of sample obtained from participants with or without Sezary Syndrome and involved in the "Integrated Genomic Analysis of Sezary Syndrome at the Human Genome Sequencing Center, Baylor College of Medicine" project.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht004476
C3846158 (UMLS CUI [1,1])
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 specimen extraction stage
text
C0475358 (UMLS CUI [1,1])
C0185115 (UMLS CUI [1,2])
C0699749 (UMLS CUI [1,3])
Code List
Tumor specimen extraction stage
CL Item
tumor specimens were obtained after chemotherapy (post chemotherapy)
CL Item
tumor specimens were obtained after radiation therapy (post radiation)
CL Item
tumor specimens were obtained before any treatment (primary resection)
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])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])

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