Gynecology Book



Aka: BRCA1
  1. Pathophysiology
    1. BRCA1, like BRCA2, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
    2. Chromosome 17q21
  2. Epidemiology
    1. More common in Ashkenazi Jewish women
    2. Much less effect in males compared with BRCA2
    3. Responsible for a third of hereditary Breast Cancer
  3. Associated Conditions
    1. Ovarian Cancer risk: 18 to 40% (up to 54% in some studies)
      1. Typically high grade serous Phenotype
    2. Prostate Cancer: <30%
    3. Pancreatic Cancer: 1 to 3%
    4. Breast Cancer in Men: 1 to 2%
    5. Breast Cancer risk in women: 50-80%
      1. Triple negative Breast Cancer in 80% of cases
      2. Second primary Breast Cancer 27% within 5 years
      3. Age 20-29: Relative Risk Breast Cancer 106
      4. Age 30-39 Relative Risk Breast Cancer 44
      5. Age 40-49: Relative Risk Breast Cancer 15
      6. Age 50-59: Relative Risk Breast Cancer 8.2
      7. Age 60-69: Relative Risk Breast Cancer 2.8
      8. Chen (2006) j clin oncol 24(6): 863-71 [PubMed]
      9. Metcalfe (2018) Clin Genet 93(5): 1063-8 [PubMed]
  4. References
    1. Lypas (2018) Forum of Clinical Oncology 7(2): 16-24
    2. (1994) Science 266:66 [PubMed]
    3. (1995) Nat Genet 11:198 [PubMed]
    4. Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]

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 Biologically Active Substance (T123) , Amino Acid, Peptide, or Protein (T116)
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
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
Croatian Protein 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, Producto del Gen 1 del Cáncer de Mama, Proteína BRCA1
French Produit gène BRCA1, Protéine BRCA1
Italian Proteina BRCA1
Portuguese Produto do Gene BRCA1, Produto do Gene do Câncer da Mama 1, Proteína BRCA1
Derived from the NIH UMLS (Unified Medical Language System)

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