ID

45529

Descripción

Principal Investigator: Lisa Cannon Albright, PhD, The University of Utah, UT, USA MeSH: Prostate cancer, familial https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000733 Initially, the ICPCG focused largely on high-risk prostate cancer pedigrees using linkage analysis. However, association studies have also been informative to find prostate cancer susceptibility variants in the genome. We hypothesize that genome-wide (GW) association studies of familial cases of prostate cancer will have the power to identify rarer and perhaps less penetrant risk variants associated with prostate cancer than have been identified to date. Our approach will be to examine evidence for association in selected, independent cases from high-risk pedigrees; we hypothesize that they represent a more homogeneous set of cases with potentially different associations. Use of the 5M plus exome SNP platform will allow us to include in our search more rare variants in our search than have ever been investigated for prostate cancer. *Aim 1. *Identify a set of independent prostate cancer cases selected from ICPCG high-risk prostate cancer pedigrees that have 3 or more related prostate cancer cases and have an average age at diagnosis ≤ 75 years. Identify appropriate matched controls from participating ICPCG groups/ populations. *Aim 2. *Perform GW SNP genotyping with the Illumina 5M plus exome SNP set on the set of independent prostate cancer cases and controls described in Aim 1. *Aim 3. *Perform association analyses appropriately matching controls for different ICPCG populations and groups. There will be a two-stage design for confirmation. *Aim 4. *Test reported associations using the extensive sample set available to us by collaboration with the PRACTICAL consortium that has access to 50 000 DNA samples from 34 groups internationally *(over 7,000 of whom are positive for prostate cancer family history).*

Link

dbGaP-study=phs000733

Palabras clave

  1. 27/12/22 27/12/22 - Chiara Middel
Titular de derechos de autor

Lisa Cannon Albright, PhD, The University of Utah, UT, USA

Subido en

27 de diciembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000733 ICPCG Genome Wide Association Study of Familial Prostate Cancer

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
**Selection of cases:**
Descripción

Elig.phs000733.v1.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0949543
Ascertainment of 1 case from each pedigree that meets the ascertainment criteria: pedigree average age dx ≤ 75 years and 3 or more related cases
Descripción

Elig.phs000733.v1.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0030761
UMLS CUI [1,2]
C0243161
UMLS CUI [1,3]
C1550543
UMLS CUI [1,4]
C0001779
UMLS CUI [1,5]
C0445223
UMLS CUI [1,6]
C0868928
Case to select by pedigree:
Descripción

Elig.phs000733.v1.p1.3

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1698493
UMLS CUI [1,2]
C0949543
UMLS CUI [1,3]
C0600091
UMLS CUI [1,4]
C0030761
-Most aggressive case or Earliest age onset/dx if no, or more than one, most aggressive
Descripción

Elig.phs000733.v1.p1.4

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C2945759
UMLS CUI [2,1]
C0814120
**Selection of controls**
Descripción

Elig.phs000733.v1.p1.5

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0949543
UMLS CUI [1,2]
C0009932
Must be male Must be unrelated to cases Must be unrelated to each other Controls not 1:1 matched to cases, but overall distribution by race/birth year is similar.
Descripción

Elig.phs000733.v1.p1.6

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0086582
UMLS CUI [1,2]
C1546988
UMLS CUI [1,3]
C0150103
UMLS CUI [1,4]
C1704711
UMLS CUI [1,5]
C0034510
UMLS CUI [1,6]
C2826771

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000733.v1.p1.1
Item
**Selection of cases:**
boolean
C0949543 (UMLS CUI [1,1])
Elig.phs000733.v1.p1.2
Item
Ascertainment of 1 case from each pedigree that meets the ascertainment criteria: pedigree average age dx ≤ 75 years and 3 or more related cases
boolean
C0030761 (UMLS CUI [1,1])
C0243161 (UMLS CUI [1,2])
C1550543 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
C0445223 (UMLS CUI [1,5])
C0868928 (UMLS CUI [1,6])
Elig.phs000733.v1.p1.3
Item
Case to select by pedigree:
boolean
C1698493 (UMLS CUI [1,1])
C0949543 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
C0030761 (UMLS CUI [1,4])
Elig.phs000733.v1.p1.4
Item
-Most aggressive case or Earliest age onset/dx if no, or more than one, most aggressive
boolean
C2945759 (UMLS CUI [1,1])
C0814120 (UMLS CUI [2,1])
Elig.phs000733.v1.p1.5
Item
**Selection of controls**
boolean
C0949543 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
Elig.phs000733.v1.p1.6
Item
Must be male Must be unrelated to cases Must be unrelated to each other Controls not 1:1 matched to cases, but overall distribution by race/birth year is similar.
boolean
C0086582 (UMLS CUI [1,1])
C1546988 (UMLS CUI [1,2])
C0150103 (UMLS CUI [1,3])
C1704711 (UMLS CUI [1,4])
C0034510 (UMLS CUI [1,5])
C2826771 (UMLS CUI [1,6])

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