ID

45148

Beskrivning

Principal Investigator: Janet L. Stanford, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, USA MeSH: Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000350 The specific aim of this study is to identify hereditary prostate cancer (HPC) susceptibility genes using a novel study design, whereby whole-exome sequencing will be undertaken on multiple affected relatives from 19 HPC families, in which ≥ 3 affected relatives were diagnosed with clinically aggressive and/or early onset prostate cancer (PC). While whole-exome sequencing of unrelated affected individuals would result in hundreds of candidate disease variants, this family-based, aggressive/early onset phenotype approach will provide an enriched genetic background for discovery and significantly reduce the number of candidate mutations that will require follow-up. Findings from this pilot study will immediately be followed-up to confirm whether candidate mutations found in each family segregate with disease in the remaining unscreened relatives. As part of this pilot study, we aim to:- Perform whole-exome sequencing on 80 affected and 11 unaffected relatives from 19 HPC families that have multiple men diagnosed with an aggressive and/or early onset disease phenotype using the Illumina HiSeq platform; and, - Analyze sequencing data using BWA, SAMtools and SeattleSeq to prioritize candidate HPC mutations that segregate with aggressive and/or early onset disease in affected relatives.

Länk

dbGaP study = phs000350

Nyckelord

  1. 2022-09-20 2022-09-20 - Simon Heim
  2. 2022-10-12 2022-10-12 - Adrian Schulz
Rättsinnehavare

Janet L. Stanford, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, USA

Uppladdad den

12 oktober 2022

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000350 FHCRC - Whole-Exome Sequencing of Hereditary Prostate Cancer Families

Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, subject ID, and sample source of participants.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include subject ID, consent group, affection status, and subject source of participants.
    3. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include family ID, father ID, mother ID, and sex of participants
    4. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, subject ID, and sample source of participants.
    5. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include subject ID, affection status, age, and duplicated samples of participants.
    6. Study involve identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, body site of sample origin, analyte type, tumor or normal tissue, and primary tumor location associated with samples obtained from participants.
pht002201
Beskrivning

pht002201

De-identified subject ID
Beskrivning

SUBJID

Datatyp

text

Alias
UMLS CUI [1,1]
C4684638 (De-identified Information)
UMLS CUI [1,2]
C2348585 (Clinical Trial Subject Unique Identifier)
De-identified sample ID
Beskrivning

SAMPID

Datatyp

text

Alias
UMLS CUI [1,1]
C4684638 (De-identified Information)
UMLS CUI [1,2]
C1299222 (Sample identification number)
SNOMED
372274003
Source repository where samples originate
Beskrivning

SAMP_SOURCE

Datatyp

text

Alias
UMLS CUI [1,1]
C0449416 (Source)
SNOMED
260753009
LOINC
LP21212-3
UMLS CUI [1,2]
C3847505 (Repository)
LOINC
LP182360-0
De-identified sample ID used in the Source Repository
Beskrivning

SOURCE_SAMPID

Datatyp

text

Alias
UMLS CUI [1,1]
C4684638 (De-identified Information)
UMLS CUI [1,2]
C0449416 (Source)
SNOMED
260753009
LOINC
LP21212-3
UMLS CUI [1,3]
C3847505 (Repository)
LOINC
LP182360-0
UMLS CUI [1,4]
C2348585 (Clinical Trial Subject Unique Identifier)
Duplicated samples
Beskrivning

DUPL_SAMP

Datatyp

text

Alias
UMLS CUI [1,1]
C0332597 (Duplication (finding))
SNOMED
89049001
LOINC
LA6686-5
UMLS CUI [1,2]
C0370003 (Specimen)
SNOMED
123038009
LOINC
LP7593-9
Sample Use
Beskrivning

SAMPLE_USE

Datatyp

text

Alias
UMLS CUI [1,1]
C1524063 (Use of)
SNOMED
260676000
UMLS CUI [1,2]
C0370003 (Specimen)
SNOMED
123038009
LOINC
LP7593-9

Similar models

Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, subject ID, and sample source of participants.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include subject ID, consent group, affection status, and subject source of participants.
    3. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include family ID, father ID, mother ID, and sex of participants
    4. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, subject ID, and sample source of participants.
    5. Study involves identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include subject ID, affection status, age, and duplicated samples of participants.
    6. Study involve identification of hereditary prostate cancer [HPC] susceptibility genes using a novel study design where whole-exome sequencing was undertaken on multiple affected relatives from 19 HPC families with 3 or more affected relatives diagnosed with clinically aggressive and/or early onset prostate cancer. Variables include sample ID, body site of sample origin, analyte type, tumor or normal tissue, and primary tumor location associated with samples obtained from participants.
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht002201
SUBJID
Item
De-identified subject ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
SAMPID
Item
De-identified sample ID
text
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
SAMP_SOURCE
Item
Source repository where samples originate
text
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SAMPID
Item
De-identified sample ID used in the Source Repository
text
C4684638 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
C2348585 (UMLS CUI [1,4])
DUPL_SAMP
Item
Duplicated samples
text
C0332597 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
Item
Sample Use
text
C1524063 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
Whole exome sequencing (WES_SRA)

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