ID

46168

Descripción

Principal Investigator: Francesca Demichelis, PhD, Centre for Integrative Biology, University of Trento, Trento, Italy MeSH: Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000487 Prostate cancer is a leading cause of cancer death in males throughout the world and has the largest estimated effect of heritability among the most common tumor types. Copy Number Variants (CNVs) are a recently recognized class of human germline polymorphisms (Iafrate AJ, et al. (2004) Nat Genet 36, 949-951; Sebat J, et al. (2004) Science 305, 525-528.) and are associated with a variety of human diseases, including cancer. This study characterized 1,903 individuals from the Tyrol Early Prostate Cancer Detection Program (Bartsch G, et al. (2008) BJU Int 101, 809-816) using a computational framework (Banerjee S, et al. (2011) PLoS One 29;6(3)). The study results establish non-coding and coding germline CNVs as significant risk factors for prostate cancer susceptibility and implicate their role in disease development and progression. The study "Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk," Demichelis F, Setlur SR, Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6686-91.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000487

Palabras clave

  1. 23/1/23 23/1/23 - Dr. med. Lucy Kessler
  2. 29/1/25 29/1/25 - Akane Nishihara
Titular de derechos de autor

Francesca Demichelis, PhD, Centre for Integrative Biology, University of Trento, Trento, Italy

Subido en

29 de enero de 2025

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000487 Functionally Active Copy Number Variants Associated with Prostate Cancer Risk

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
All individuals included in the discovery are part of the Tyrol Prostate Specific Antigen (PSA) Screening Cohort. Cases were defined as men with biopsy confirmed prostate cancer. Controls were defined as men with a benign prostate biopsy result and no cancer diagnosis in available follow-up data.
Descripción

Elig.phs000487.v2.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0599755
UMLS CUI [1,2]
C1704788
UMLS CUI [1,3]
C0027365

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.phs000487.v2.p1.1
Item
All individuals included in the discovery are part of the Tyrol Prostate Specific Antigen (PSA) Screening Cohort. Cases were defined as men with biopsy confirmed prostate cancer. Controls were defined as men with a benign prostate biopsy result and no cancer diagnosis in available follow-up data.
boolean
C0599755 (UMLS CUI [1,1])
C1704788 (UMLS CUI [1,2])
C0027365 (UMLS CUI [1,3])

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