BRCA1 - Breast cancer type 1 susceptibility protein - human protein (Medical)
 
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BRCA1 »  Breast cancer type 1 susceptibility protein   [ EC 6.3.2.- ]
 
Protein also known as:  RING finger protein 53.
Gene name:  BRCA1
Entry whose protein(s) existence is based on evidence at protein level
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1 204 6
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.  
  • CuratedUniProtKB
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.  
  • CuratedUniProtKB
Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Pancreatic cancer 4 (PNCA4) [MIM:614320]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Familial pancreatic carcinoma  1333  
Familial prostate cancer  1331  
Hereditary breast and ovarian cancer syndrome  145  
Hereditary breast cancer  227535  
Hereditary site-specific ovarian cancer syndrome  213524  
Primary peritoneal carcinoma  168829  
Polymorphism 
There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer.  
  • CuratedUniProtKB
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Tumor suppressor  definition   [KW-0043]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 672
MIM: 604370
MIM: 114480
MIM: 167000
MIM: 614320
PharmGKB: PA25411
Polymorphism databases
DMDM: 728984
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.