ID

45148

Descripción

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

Palabras clave

  1. 20/9/22 20/9/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

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

Subido en

12 de octubre de 2022

DOI

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Licencia

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 subject ID, affection status, age, and duplicated samples 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.
pht002202
Descripción

pht002202

De-identified subject ID
Descripción

SUBJID

Tipo de datos

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Affected or unaffected
Descripción

Affection_Status

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0871641
UMLS CUI [1,2]
C2986417
Age at diagnosis for affected relatives, age at last contact for unaffected relatives
Descripción

AGE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C1828181
UMLS CUI [1,2]
C0524348
UMLS CUI [2,1]
C0805839
UMLS CUI [2,2]
C2986417
UMLS CUI [2,3]
C0080103
Duplicate sample for subject sent to be used for QC purposes
Descripción

Duplicate_SAMP

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0205173
UMLS CUI [1,2]
C0370003
UMLS CUI [1,3]
C0034378

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 subject ID, affection status, age, and duplicated samples 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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht002202
SUBJID
Item
De-identified subject ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Affected or unaffected
text
C0871641 (UMLS CUI [1,1])
C2986417 (UMLS CUI [1,2])
Code List
Affected or unaffected
CL Item
Unaffected (0)
CL Item
Affected (1)
AGE
Item
Age at diagnosis for affected relatives, age at last contact for unaffected relatives
text
C1828181 (UMLS CUI [1,1])
C0524348 (UMLS CUI [1,2])
C0805839 (UMLS CUI [2,1])
C2986417 (UMLS CUI [2,2])
C0080103 (UMLS CUI [2,3])
Item
Duplicate sample for subject sent to be used for QC purposes
text
C0205173 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
C0034378 (UMLS CUI [1,3])
Code List
Duplicate sample for subject sent to be used for QC purposes
CL Item
Original sample only (0)
CL Item
Duplicate sample (1)

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