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 | Breast Neoplasms, Male | Carcinoma, Non-Small-Cell Lung | Colonic Neoplasms | Colorectal Neoplasms | Esophageal Neoplasms | Eye Diseases, Hereditary | Laryngeal Neoplasms | Melanoma | Ovarian Neoplasms | Pancreatic Neoplasms | Pancreatitis, Alcoholic | Prostatic Neoplasms | Uterine Cervical Neoplasms
Human BRCA1 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    [22], E  
BRCA1   DNA   promoter hypermethylation   correlates with   non-familial/sporadic     Breast Neoplasms     hypermethylation of the BRCA1 promoter correlates with non-familial form of breast neoplasms    [30], 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    [51], E; [23], 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    [34], 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    [26], E  
BRCA1   Protein   increased protein expression   correlates with     response to drug   Breast Neoplasms     increased expression of BRCA1 protein correlates with increased response to drug associated with breast neoplasms    [37], E  
BRCA1   Protein   decreased folding   may cause       Breast Neoplasms     decreased folding of BRCA1 may cause breast neoplasms    [8], E  
BRCA1   DNA   mutation in PFAM domain   causes       Breast Neoplasms     mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms    [11], E  
BRCA1   DNA   gene mutation   correlates with     DNA repair   Breast Neoplasms     mutation in the BRCA1 gene correlates with decreased DNA repair associated with breast neoplasms    [17], E  
BRCA1   DNA   gene loss of heterozygosity   correlates with   Carcinoma, Small Cell     Breast Neoplasms     loss of heterozygosity at the BRCA1 gene correlates with small cell carcinoma associated with breast neoplasms    [18], E  
BRCA1   DNA   gene mutation   correlates with     protein metabolic process   Breast Neoplasms     mutation in the BRCA1 gene correlates with abnormal protein metabolic process associated with breast neoplasms    [12], 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    [43], E; [9], E  
BRCA1   DNA   gene mutation   correlates with       Breast Neoplasms     mutation in the BRCA1 gene correlates with breast neoplasms    [16], E  
BRCA1   DNA   gene mutation   correlates with   early onset     Breast Neoplasms     mutation in the BRCA1 gene correlates with early onset form of breast neoplasms    [28], E  
BRCA1   mRNA   increased mRNA expression   may correlate with     response to organic substance   Breast Neoplasms     increased expression of BRCA1 mRNA may correlate with increased response to organic substance associated with breast neoplasms    [6], E  
BRCA1   mRNA   lack of mRNA expression   correlates with   non-familial/sporadic     Breast Neoplasms     lack of expression of BRCA1 mRNA correlates with non-familial form of breast neoplasms    [30], 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    [23], E  
BRCA1   DNA   promoter hypermethylation   may cause       Breast Neoplasms     hypermethylation of the BRCA1 promoter may cause breast neoplasms    [35], E  
BRCA1   DNA   gene mutation   correlates with   familial     Breast Neoplasms     mutation in the BRCA1 gene correlates with familial form of breast neoplasms    [12], E; [41], E; [28], 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    [14], 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    [34], 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    [51], E; [23], E  
BRCA1   DNA   promoter hypermethylation   correlates with       Breast Neoplasms     hypermethylation of the BRCA1 promoter correlates with carcinoma tumors associated with breast neoplasms    [30], E  
BRCA1   DNA   gene mutation   causes   familial     Breast Neoplasms     mutation in the BRCA1 gene causes familial form of breast neoplasms    [53], E  
BRCA1   mRNA   lack of mRNA expression   correlates with       Breast Neoplasms     lack of expression of BRCA1 mRNA correlates with carcinoma tumors associated with breast neoplasms    [30], E  
BRCA1   DNA   gene mutation   correlates with       Breast Neoplasms     mutation in the BRCA1 gene correlates with carcinoma tumors associated with breast neoplasms    [41], E  
BRCA1   DNA   gene mutation   correlates with   Disease Susceptibility     Breast Neoplasms     mutation in the BRCA1 gene correlates with increased occurrence of disease susceptibility associated with breast neoplasms    [13], E  
BRCA1   Protein   altered protein stability   may cause       Breast Neoplasms     abnormal stability of BRCA1 may cause breast neoplasms    [11], 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    [26], 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    [35], E  
BRCA1   Protein   lack of protein expression   correlates with   Death     Breast Neoplasms     lack of expression of BRCA1 protein correlates with increased occurrence of death associated with breast neoplasms    [25], 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    [51], E; [23], E  
BRCA1   Protein   increased protein expression   correlates with     cell proliferation   Breast Neoplasms     increased expression of BRCA1 protein correlates with decreased cell proliferation associated with breast neoplasms    [37], 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    [10], 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    [51], E  
BRCA1   DNA   gene mutation   correlates with     transcription   Breast Neoplasms     mutation in the BRCA1 gene correlates with abnormal transcription associated with breast neoplasms    [15], E  
BRCA1   DNA   protein domain missense mutation   causes       Breast Neoplasms     missense mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms    [8], E  
BRCA1   Protein   decreased protein stability   may cause       Breast Neoplasms     decreased stability of BRCA1 may cause breast neoplasms    [8], E  
BRCA1   DNA   gene mutation   may cause     transcription   Breast Neoplasms     mutation in the BRCA1 gene may cause abnormal transcription associated with breast neoplasms    [21], E  
BRCA1   DNA   gene missense mutation   may correlate with   Prostatic Neoplasms     Breast Neoplasms, Male     missense mutation in the BRCA1 gene may correlate with prostatic neoplasms associated with male breast neoplasms    [4], E  
BRCA1   DNA   gene mutation   correlates with       Breast Neoplasms, Male     mutation in the BRCA1 gene correlates with male breast neoplasms    [16], E  
BRCA1   DNA   promoter hypermethylation   may correlate with       Carcinoma, Non-Small-Cell Lung     hypermethylation of the BRCA1 promoter may correlate with non-small-cell lung carcinoma    [2], E  
BRCA1   DNA   promoter hypermethylation   may correlate with       Carcinoma, Non-Small-Cell Lung     hypermethylation of the BRCA1 promoter may correlate with adenocarcinoma tumors associated with non-small-cell lung carcinoma    [2], E  
BRCA1   DNA   locus loss of heterozygosity   correlates with       Colonic Neoplasms     loss of heterozygosity at the BRCA1 locus correlates with colonic neoplasms    [49], E  
BRCA1   DNA   gene mutation   may correlate with   Disease Susceptibility     Colorectal Neoplasms     mutation in the BRCA1 gene may correlate with increased occurrence of disease susceptibility associated with colorectal neoplasms    [32], E  
BRCA1   DNA   gene mutation   may correlate with   increased occurrence of non-familial form     Colorectal Neoplasms     mutation in the BRCA1 gene may correlate with increased occurrence of non-familial form of colorectal neoplasms    [32], E  
BRCA1   DNA   gene insertion mutation   may not cause   Disease Susceptibility     Colorectal Neoplasms     insertion mutation in the BRCA1 gene does not cause increased occurrence of disease susceptibility associated with colorectal neoplasms    [27], E  
BRCA1   Protein   increased protein expression   correlates with       Colorectal Neoplasms     increased expression of BRCA1 protein correlates with carcinoma tumors associated with colorectal neoplasms    [20], E  
BRCA1   DNA   gene mutation   does not correlate with   Disease Susceptibility     Colorectal Neoplasms     mutation in the BRCA1 gene does not correlate with increased occurrence of disease susceptibility associated with colorectal neoplasms    [33], E  
BRCA1   DNA   gene deletion mutation   may not cause   Disease Susceptibility     Colorectal Neoplasms     deletion mutation in the BRCA1 gene does not cause increased occurrence of disease susceptibility associated with colorectal neoplasms    [27], E  
BRCA1   Protein   increased protein localization   correlates with       Colorectal Neoplasms     increased nucleus localization of BRCA1 correlates with carcinoma tumors associated with colorectal neoplasms    [20], E  
BRCA1   Protein   increased protein localization   correlates with   non-familial/sporadic     Colorectal Neoplasms     increased nucleus localization of BRCA1 correlates with non-familial form of colorectal neoplasms    [20], E  
BRCA1   Protein   increased protein expression   correlates with   non-familial/sporadic     Colorectal Neoplasms     increased expression of BRCA1 protein correlates with non-familial form of colorectal neoplasms    [20], E  
BRCA1   DNA   locus loss of heterozygosity   correlates with   Barrett Esophagus     Esophageal Neoplasms     loss of heterozygosity at the BRCA1 locus correlates with Barrett esophagus associated with esophageal neoplasms    [42], E  
BRCA1   DNA   locus loss of heterozygosity   correlates with       Esophageal Neoplasms     loss of heterozygosity at the BRCA1 locus correlates with adenocarcinoma tumors associated with esophageal neoplasms    [42], E  
BRCA1   DNA   locus loss of heterozygosity   correlates with       Esophageal Neoplasms     loss of heterozygosity at the BRCA1 locus correlates with squamous cell carcinoma tumors associated with esophageal neoplasms    [52], E  
BRCA1   DNA   gene polymorphism   may correlate with       Eye Diseases, Hereditary     polymorphism in the BRCA1 gene may correlate with melanoma tumors associated with hereditary eye diseases    [47], E  
BRCA1   DNA   locus loss of heterozygosity   may correlate with       Laryngeal Neoplasms     loss of heterozygosity at the BRCA1 locus may correlate with laryngeal neoplasms    [50], E  
BRCA1   DNA   gene polymorphism   may correlate with       Melanoma     polymorphism in the BRCA1 gene may correlate with melanoma    [47], E  
BRCA1   mRNA   decreased mRNA expression   correlates with   invasive     Melanoma     decreased expression of BRCA1 mRNA correlates with invasive form of melanoma    [1], E  
BRCA1   mRNA   decreased mRNA expression   correlates with       Melanoma     decreased expression of BRCA1 mRNA correlates with melanoma    [1], E  
BRCA1   DNA   promoter hypermethylation   correlates with       Ovarian Neoplasms     hypermethylation of the BRCA1 promoter correlates with carcinoma tumors associated with ovarian neoplasms    [30], 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    [23], E  
BRCA1   mRNA   increased mRNA expression   correlates with       Ovarian Neoplasms     increased expression of BRCA1 mRNA correlates with ovarian neoplasms    [39], 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    [35], E  
BRCA1   DNA   promoter hypermethylation   correlates with   non-familial/sporadic     Ovarian Neoplasms     hypermethylation of the BRCA1 promoter correlates with non-familial form of ovarian neoplasms    [30], E  
BRCA1   mRNA   lack of mRNA expression   correlates with   non-familial/sporadic     Ovarian Neoplasms     lack of expression of BRCA1 mRNA correlates with non-familial form of ovarian neoplasms    [30], E  
BRCA1   DNA   gene mutation   causes   familial     Ovarian Neoplasms     mutation in the BRCA1 gene causes familial form of ovarian neoplasms    [53], 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    [23], 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    [23], 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    [23], E  
BRCA1   DNA   gene mutation   correlates with       Ovarian Neoplasms     mutation in the BRCA1 gene correlates with ovarian neoplasms    [16], E  
BRCA1   DNA   gene mutation   correlates with   familial     Ovarian Neoplasms     mutation in the BRCA1 gene correlates with familial form of ovarian neoplasms    [41], E  
BRCA1   DNA   promoter hypermethylation   may cause       Ovarian Neoplasms     hypermethylation of the BRCA1 promoter may cause ovarian neoplasms    [35], E  
BRCA1   mRNA   lack of mRNA expression   correlates with       Ovarian Neoplasms     lack of expression of BRCA1 mRNA correlates with carcinoma tumors associated with ovarian neoplasms    [30], E  
BRCA1   DNA   gene mutation   correlates with       Ovarian Neoplasms     mutation in the BRCA1 gene correlates with carcinoma tumors associated with ovarian neoplasms    [41], E  
BRCA1   mRNA   decreased mRNA expression   correlates with   Adenocarcinoma     Pancreatic Neoplasms     decreased expression of BRCA1 mRNA correlates with adenocarcinoma associated with pancreatic neoplasms    [5], E  
BRCA1   mRNA   decreased mRNA expression   correlates with   Death     Pancreatic Neoplasms     decreased expression of BRCA1 mRNA correlates with increased occurrence of death associated with pancreatic neoplasms    [5], E  
BRCA1   DNA   gene insertion mutation   may correlate with       Pancreatic Neoplasms     insertion mutation in the BRCA1 gene may correlate with adenocarcinoma tumors associated with pancreatic neoplasms    [31], E  
BRCA1   DNA   gene insertion mutation   may correlate with   familial     Pancreatic Neoplasms     insertion mutation in the BRCA1 gene may correlate with familial form of pancreatic neoplasms    [31], E  
BRCA1   mRNA   decreased mRNA expression   correlates with   chronic     Pancreatitis, Alcoholic     decreased expression of BRCA1 mRNA correlates with chronic form of alcoholic pancreatitis    [5], E  
BRCA1   DNA   maps to disease locus   does not correlate with   Genetic Predisposition to Disease     Prostatic Neoplasms     BRCA1 map position does not correlate with genetic predisposition to disease associated with prostatic neoplasms    [45], E  
BRCA1   DNA   gene mutation   does not correlate with   familial     Prostatic Neoplasms     mutation in the BRCA1 gene does not correlate with familial form of prostatic neoplasms    [46], E  
BRCA1   DNA   gene mutation   may not correlate with   early onset     Prostatic Neoplasms     mutation in the BRCA1 gene may not correlate with early onset form of prostatic neoplasms    [29], 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    [36], E  
BRCA1   mRNA   increased mRNA expression   may correlate with   Aneuploidy     Prostatic Neoplasms     increased expression of BRCA1 mRNA may correlate with aneuploidy associated with prostatic neoplasms    [19], 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    [24], E  
BRCA1   Protein   increased protein expression   correlates with     cell proliferation   Prostatic Neoplasms     increased expression of BRCA1 protein correlates with decreased cell proliferation associated with prostatic neoplasms    [37], E  
BRCA1   DNA   gene missense mutation   may correlate with   Breast Neoplasms, Male     Prostatic Neoplasms     missense mutation in the BRCA1 gene may correlate with male breast neoplasms associated with prostatic neoplasms    [4], E  
BRCA1   DNA   gene mutation   may not correlate with   familial     Prostatic Neoplasms     mutation in the BRCA1 gene may not correlate with familial form of prostatic neoplasms    [29], E; [38], E  
BRCA1   mRNA   decreased mRNA expression   may correlate with   less severe     Prostatic Neoplasms     decreased expression of BRCA1 mRNA may correlate with less severe form of prostatic neoplasms    [40], E  
BRCA1   mRNA   increased mRNA expression   correlates with       Prostatic Neoplasms     increased expression of BRCA1 mRNA correlates with prostatic neoplasms    [39], E  
BRCA1   DNA   maps to disease locus   correlates with   Genetic Predisposition to Disease     Prostatic Neoplasms     BRCA1 map position correlates with genetic predisposition to disease associated with prostatic neoplasms    [7], E  
BRCA1   Protein   maps to disease locus   correlates with   Neoplasm Metastasis     Prostatic Neoplasms     BRCA1 map position correlates with decreased severity of neoplasm metastasis associated with prostatic neoplasms    [48], E  
BRCA1   Protein   increased protein expression   correlates with     response to drug   Prostatic Neoplasms     increased expression of BRCA1 protein correlates with increased response to drug associated with prostatic neoplasms    [37], E  
BRCA1   DNA   promoter hypermethylation   may correlate with       Uterine Cervical Neoplasms     hypermethylation of the BRCA1 promoter may correlate with uterine cervical neoplasms    [3], E  
BRCA1   mRNA   decreased mRNA expression   may correlate with       Uterine Cervical Neoplasms     decreased expression of BRCA1 mRNA may correlate with uterine cervical neoplasms    [3], E  
BRCA1   DNA   locus loss of heterozygosity   correlates with       Uterine Cervical Neoplasms     loss of heterozygosity at the BRCA1 locus correlates with carcinoma tumors associated with uterine cervical neoplasms    [44], E  
References  [hide]
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   (53 entries)
[1] PMID 15009718. Downregulation of BRCA1 in A375 melanoma cell line increases radio-sensitivity and modifies metastatic and angiogenic gene expression. J Invest Dermatol 122(2) 369-80 (2004)
[2] PMID 14647419. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene 23(4) 1000-4 (2004)
[3] PMID 15126331. Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer. Cancer Research 64(9) 2994-7 (2004)
[4] PMID 15154626. Male breast adenocarcinoma in a prostate cancer patient following prolonged anti-androgen monotherapy. Anticancer Research 24(2) 1077-81 (2004)
[5] PMID 15173085. Down-regulation of BRCA1 in chronic pancreatitis and sporadic pancreatic adenocarcinoma. Clin Cancer Res 10(11) 3780-7 (2004)
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