ID

45148

Descrição

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.

Link

dbGaP study = phs000350

Palavras-chave

Versões (2)
  1. 20/09/2022 20/09/2022 - Simon Heim
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

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

Transferido a

12 de outubro de 2022

DOI

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Licença

Creative Commons BY 4.0
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dbGaP phs000350 FHCRC - Whole-Exome Sequencing of Hereditary Prostate Cancer Families

Inglês

Eligibility Criteria

6 Formulários  
  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.
Inclusion and exclusion criteria
Descrição

Inclusion and exclusion criteria

We have identified 19 HPC families, from a larger set of 307 HPC families, in which ≥ 3 affected relatives were diagnosed with clinically aggressive (defined as Gleason score 8-10, regional or distant stage disease, and/or PC-specific death before age 75) and/or early onset disease (diagnosed at or before age 65 years). To increase the probability of detecting mutations that are truly segregating with disease, the majority of affected men chosen for whole-exome sequencing are ≥ second-degree relatives. In addition, where possible an older, unaffected male relative has been chosen as a 'control' from each family.
Descrição

We have identified 19 HPC families, from a larger set of 307 HPC families, in which ≥ 3 affected relatives were diagnosed with clinically aggressive (defined as Gleason score 8-10, regional or distant stage disease, and/or PC-specific death before age 75) and/or early onset disease (diagnosed at or before age 65 years). To increase the probability of detecting mutations that are truly segregating with disease, the majority of affected men chosen for whole-exome sequencing are ≥ second-degree relatives. In addition, where possible an older, unaffected male relative has been chosen as a 'control' from each family.

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C2931456
UMLS CUI [1,3]
C0205449
UMLS CUI [1,4]
C0522476
UMLS CUI [1,5]
C0011900
UMLS CUI [1,6]
C2945759
UMLS CUI [1,7]
C4025592
UMLS CUI [2,1]
C1704788
UMLS CUI [2,2]
C2945759
UMLS CUI [2,3]
C1272646
UMLS CUI [2,4]
C1514819
UMLS CUI [2,5]
C0443203
UMLS CUI [2,6]
C0012634
UMLS CUI [2,7]
C4737841
UMLS CUI [3,1]
C3640077
UMLS CUI [3,2]
C1519210
UMLS CUI [3,3]
C0522476
UMLS CUI [4,1]
C0009932
UMLS CUI [4,2]
C0522477
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Similar models

Eligibility Criteria

6 Formulários
  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
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion and exclusion criteria
We have identified 19 HPC families, from a larger set of 307 HPC families, in which ≥ 3 affected relatives were diagnosed with clinically aggressive (defined as Gleason score 8-10, regional or distant stage disease, and/or PC-specific death before age 75) and/or early onset disease (diagnosed at or before age 65 years). To increase the probability of detecting mutations that are truly segregating with disease, the majority of affected men chosen for whole-exome sequencing are ≥ second-degree relatives. In addition, where possible an older, unaffected male relative has been chosen as a 'control' from each family.
Item
We have identified 19 HPC families, from a larger set of 307 HPC families, in which ≥ 3 affected relatives were diagnosed with clinically aggressive (defined as Gleason score 8-10, regional or distant stage disease, and/or PC-specific death before age 75) and/or early onset disease (diagnosed at or before age 65 years). To increase the probability of detecting mutations that are truly segregating with disease, the majority of affected men chosen for whole-exome sequencing are ≥ second-degree relatives. In addition, where possible an older, unaffected male relative has been chosen as a 'control' from each family.
boolean
C0015576 (UMLS CUI [1,1])
C2931456 (UMLS CUI [1,2])
C0205449 (UMLS CUI [1,3])
C0522476 (UMLS CUI [1,4])
C0011900 (UMLS CUI [1,5])
C2945759 (UMLS CUI [1,6])
C4025592 (UMLS CUI [1,7])
C1704788 (UMLS CUI [2,1])
C2945759 (UMLS CUI [2,2])
C1272646 (UMLS CUI [2,3])
C1514819 (UMLS CUI [2,4])
C0443203 (UMLS CUI [2,5])
C0012634 (UMLS CUI [2,6])
C4737841 (UMLS CUI [2,7])
C3640077 (UMLS CUI [3,1])
C1519210 (UMLS CUI [3,2])
C0522476 (UMLS CUI [3,3])
C0009932 (UMLS CUI [4,1])
C0522477 (UMLS CUI [4,2])
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