Gynecology Book

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BRCA1

Aka: BRCA1
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  1. Location
    1. Chromosome 17
  2. Epidemiology
    1. Defective gene connotes:
      1. Breast Cancer risk: 90%
      2. Ovarian Cancer risk: 40-60%
    2. More common in Ashkenazi Jewish women
    3. Does not affect males
    4. Responsible for a third of hereditary Breast Cancer
  3. Availability: Soon to be commercially available
    1. U of Pennsylvania Medical Center in Philadelphia
    2. Myriad Genetics in Salt Lake City, Utah
  4. Cost
    1. First Family Member: $670
    2. Each additional family member (if first positive): $250
  5. Efficacy
    1. Sensitivity: 85-90%
  6. References
    1. (1994) Science 266:66
    2. (1995) Nat Genet 11:198

BRCA1 Protein (C0259275)

Definition (NCI) Breast cancer type 1 susceptibility protein (1863 aa, ~208 kDa) is encoded by the human BRCA1 gene. This protein plays a role in both the maintenance of DNA and the mediation of ubiquitin E3 ligase activity.
Definition (MSH) The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
Concepts Amino Acid, Peptide, or Protein (T116) , Biologically Active Substance (T123)
MSH D019313
SnomedCT 405827002
English BRCA1 Gene Product, BRCA1 Protein, BRCA PROTEIN 001, BRCA GENE PRODUCT 001, RING Finger Protein 53, Breast Cancer Type 1 Susceptibility Protein, EC6.3.2.-, BRCA1 Protein [Chemical/Ingredient], Breast Cancer 1 Gene Product, BRCA1 gene product, Breast cancer type 1 susceptibility protein (substance), Breast cancer type 1 susceptibility protein, BRCA1, Breast Cancer 1, Early Onset Protein, Breast-Ovarian Cancer Protein, Breast Cancer 1 Protein
Swedish BRCA1-protein
Czech protein BRCA1
Finnish BRCA1-proteiini
Russian BRCA1 BELOK, BRCA1 GENA PRODUKT, BRCA1 БЕЛОК, BRCA1 ГЕНА ПРОДУКТ
Japanese BRCA1遣伝子産物, BRCA1蛋白質, BRCA1タンパク質
German BRCA GEN PRODUKT 001, BRUSTKREBS GENPRODUKT 01, BRCA PROTEIN 001, BRCA1-Genprodukt, BRCA1-Protein, Brustkrebs-1-Genprodukt
Polish Produkt genu BRCA1, Białko BRCA1
Spanish proteína de susceptibilidad al cáncer de mama tipo 1 (sustancia), proteína de susceptibilidad al cáncer de mama tipo 1, Producto del Gen BRCA1, Proteina BRCA1, Producto del Gen 1 del Cáncer de Mama, Proteína BRCA1, Producto del Gen 1 del Cancer de Mama
French Produit gène BRCA1, Protéine BRCA1
Italian Proteina BRCA1
Portuguese Produto do Gene BRCA1, Produto do Gene do Câncer da Mama 1, Proteína BRCA1
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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