Property Report
E Experimentally determined
S Predicted by sequence similarity
P Predicted by analysis other than seq. similarity
K Predicted by BioKnowledgeTM Transfer by BIOBASE
see Indicates references that mention and cite a finding, but do not demonstrate it directly.
Breast Neoplasms | Ovarian Neoplasms | Prostatic Neoplasms
Human BRCA1 Causal associations for BRCA1
Gene/Protein Molecule Alteration Relationship Sub-type / Linked
disorders		 Biological Process Disease Tissue Specificity Annotation & Reference
BRCA1   DNA   gene mutation   may cause     chromatin remodeling   Breast Neoplasms     mutation in the BRCA1 gene may cause abnormal chromatin remodeling associated with breast neoplasms    [9], E  
BRCA1   DNA   gene deletion mutation   may cause   increased occurrence of familial form     Breast Neoplasms     deletion mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms    [15], E; [10], E  
BRCA1   DNA   gene deletion mutation   may cause     transcription   Breast Neoplasms     deletion mutation in the BRCA1 gene may cause abnormal transcription associated with breast neoplasms    [12], E  
BRCA1   Protein   altered protein stability   may cause       Breast Neoplasms     abnormal stability of BRCA1 may cause breast neoplasms    [5], E  
BRCA1   DNA   gene mutation   may cause   increased occurrence of familial form     Breast Neoplasms     mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms    [3], E  
BRCA1   Protein   ubiquitin-protein ligase activity   may cause     protein polyubiquitination   Breast Neoplasms     absence of the ubiquitin-protein ligase activity of BRCA1 may cause decreased protein polyubiquitination associated with breast neoplasms    [7], E  
BRCA1   DNA   gene mutation   may cause     protein polyubiquitination   Breast Neoplasms     mutation in the BRCA1 gene may cause decreased protein polyubiquitination associated with breast neoplasms    [7], E  
BRCA1   DNA   gene mutation   causes   increased occurrence of early onset form     Breast Neoplasms     mutation in the BRCA1 gene causes increased occurrence of early onset form of breast neoplasms    [14], E; [2], E  
BRCA1   DNA   promoter hypermethylation   may cause   non-familial/sporadic     Breast Neoplasms     hypermethylation of the BRCA1 promoter may cause non-familial form of breast neoplasms    [13], E  
BRCA1   DNA   gene deletion mutation   may cause     chromatin remodeling   Breast Neoplasms     deletion mutation in the BRCA1 gene may cause abnormal chromatin remodeling associated with breast neoplasms    [12], E  
BRCA1   DNA   gene nonsense mutation   may cause   increased occurrence of familial form     Breast Neoplasms     nonsense mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms    [15], E; [10], E  
BRCA1   DNA   gene missense mutation   may cause   increased occurrence of familial form     Breast Neoplasms     missense mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms    [15], E; [10], E  
BRCA1   DNA   gene mutation   may cause     DNA repair   Breast Neoplasms     mutation in the BRCA1 gene may cause decreased DNA repair associated with breast neoplasms    [4], E  
BRCA1   DNA   gene insertion mutation   may cause   increased occurrence of familial form     Breast Neoplasms     insertion mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms    [15], E  
BRCA1   Protein   transcription activator activity   may cause   increased occurrence of familial form     Breast Neoplasms     decreased transcription activator activity of BRCA1 may cause increased occurrence of familial form of breast neoplasms    [10], E  
BRCA1   DNA   promoter hypermethylation   may cause       Breast Neoplasms     hypermethylation of the BRCA1 promoter may cause breast neoplasms    [13], E  
BRCA1   Protein   decreased folding   may cause       Breast Neoplasms     decreased folding of BRCA1 may cause breast neoplasms    [1], E  
BRCA1   DNA   protein domain missense mutation   causes       Breast Neoplasms     missense mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms    [1], E  
BRCA1   Protein   decreased protein stability   may cause       Breast Neoplasms     decreased stability of BRCA1 may cause breast neoplasms    [1], E  
BRCA1   DNA   gene mutation   may cause     transcription   Breast Neoplasms     mutation in the BRCA1 gene may cause abnormal transcription associated with breast neoplasms    [8], E  
BRCA1   DNA   gene mutation   causes   familial     Breast Neoplasms     mutation in the BRCA1 gene causes familial form of breast neoplasms    [16], E  
BRCA1   DNA   mutation in PFAM domain   causes       Breast Neoplasms     mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms    [5], E  
BRCA1   DNA   gene mutation   causes   familial     Ovarian Neoplasms     mutation in the BRCA1 gene causes familial form of ovarian neoplasms    [16], E  
BRCA1   DNA   gene deletion mutation   may cause   increased occurrence of familial form     Ovarian Neoplasms     deletion mutation in the BRCA1 gene may cause increased occurrence of familial form of ovarian neoplasms    [10], E  
BRCA1   DNA   promoter hypermethylation   may cause   non-familial/sporadic     Ovarian Neoplasms     hypermethylation of the BRCA1 promoter may cause non-familial form of ovarian neoplasms    [13], E  
BRCA1   DNA   promoter hypermethylation   may cause       Ovarian Neoplasms     hypermethylation of the BRCA1 promoter may cause ovarian neoplasms    [13], E  
BRCA1   DNA   gene nonsense mutation   may cause   increased occurrence of familial form     Ovarian Neoplasms     nonsense mutation in the BRCA1 gene may cause increased occurrence of familial form of ovarian neoplasms    [10], E  
BRCA1   Protein   transcription activator activity   may cause   increased occurrence of familial form     Ovarian Neoplasms     decreased transcription activator activity of BRCA1 may cause increased occurrence of familial form of ovarian neoplasms    [10], E  
BRCA1   DNA   gene missense mutation   may cause   increased occurrence of familial form     Ovarian Neoplasms     missense mutation in the BRCA1 gene may cause increased occurrence of familial form of ovarian neoplasms    [10], E  
BRCA1   Protein   increased protein expression   may cause     cell proliferation   Prostatic Neoplasms     increased expression of BRCA1 protein may cause increased cell proliferation associated with prostatic neoplasms    [6], E  
BRCA1   Protein   transcription coactivator activity   may cause     cell death   Prostatic Neoplasms     increased transcription coactivator activity of BRCA1 may cause increased cell death associated with prostatic neoplasms    [11], E  
References  [hide]
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   (16 entries)
[1] PMID 12427738. Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. Journal Of Biological Chemistry 278(4) 2630-5. (2003)
[2] PMID 12845657. Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. International Journal Of Cancer 106(4) 588-93. (2003)
[3] PMID 11857015. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. British Journal Of Cancer 86(1) 76-83. (2002)
[4] PMID 12195423. BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nature Genetics 32(1) 180-4. (2002)
[5] PMID 12096901. Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1. Journal Of Molecular Biology 320(3) 431-42. (2002)
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