ID

45148

Description

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

Keywords

  1. 9/20/22 9/20/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 2022

DOI

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License

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 family ID, father ID, mother ID, and sex 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.
pht002200
Description

pht002200

De-identified family ID
Description

FAMID

Data type

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0015576
De-identified subject ID
Description

SUBJID

Data type

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
De-identified father ID
Description

FATHER

Data type

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0015671
De-identified mother ID
Description

MOTHER

Data type

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0026591
Sex
Description

Sex

Data type

text

Alias
UMLS CUI [1,1]
C0079399

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 family ID, father ID, mother ID, and sex 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
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002200
FAMID
Item
De-identified family ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0015576 (UMLS CUI [1,3])
SUBJID
Item
De-identified subject ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
FATHER
Item
De-identified father ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0015671 (UMLS CUI [1,3])
MOTHER
Item
De-identified mother ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0026591 (UMLS CUI [1,3])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Code List
Sex
CL Item
Male (1)
CL Item
Female (2)

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