Gynecology Book



Aka: BRCA2
  1. Pathophysiology
    1. BRCA2, like BRCA1, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
    2. Chromosome 13q12-13
  2. Epidemiology
    1. Responsible for a third of hereditary Breast Cancer
    2. Affects Male as well as Female carriers of the genetic mutation
  3. Associated Conditions
    1. Ovarian Cancer risk: 11-20% (less than BRCA1)
      1. Typically high grade serous Phenotype
    2. Prostate Cancer: <40%
    3. Pancreatic Cancer: 2 to 7%
    4. Breast Cancer in Men: 5 to 10%
    5. Breast Cancer risk in women: 40 to 70% (up to 90% in some studies)
      1. Typically sporadic Phenotype (ER positive, HER2 negative)
      2. Second primary Breast Cancer 12% within 5 years (40 to 50% at 20 years)
      3. Age 20-29: Relative Risk Breast Cancer 46
      4. Age 30-39 Relative Risk Breast Cancer 38
      5. Age 40-49: Relative Risk Breast Cancer 13
      6. Age 50-59: Relative Risk Breast Cancer 9.8
      7. Age 60-69: Relative Risk Breast Cancer 2.1
      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 265:2088 [PubMed]
    3. (1995) Lancet 346:544 [PubMed]
    4. Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]

BRCA2 Protein (C0294028)

Definition (NCI) Breast cancer type 2 susceptibility protein (3418 aa, ~384 kDa) is encoded by the human BRCA2 gene. This protein plays a role in both cell cycle regulation and DNA repair.
Definition (MSH) A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Concepts Biologically Active Substance (T123) , Amino Acid, Peptide, or Protein (T116)
MSH D024682
SnomedCT 405828007
French Protéine du groupe de complémentation D1 de l'anémie de Fanconi, Protéine BRCA-2, Protéine FANC-D-1, Protéine du groupe D-1 de l'anémie de Fanconi, Protéine du groupe D1 de l'anémie de Fanconi, Protéine BRCA2, Protéine du groupe D-1 de la maladie de Fanconi, Protéine FANC-D1, Protéine FANCD1, Protéine du groupe D1 de la maladie de Fanconi
Swedish BRCA2-protein
English BRCA PROTEIN 002, FANCONI ANEMIA COMPLEMENTATION GROUP D 01 PROTEIN, Breast Cancer Type 2 Susceptibility Protein, BRCA2 Protein [Chemical/Ingredient], BRCA2 Gene Product, Breast Cancer 2 Gene Product, BRCA2 gene product, Breast cancer type 2 susceptibility protein (substance), Breast cancer type 2 susceptibility protein, BRCA2 Protein, BRCA2, FANCB, FANCD1, Breast Cancer 2, Early Onset Protein, Breast Cancer 2 Protein, FANCD1 Protein, Fanconi Anemia Complementation Group D1 Protein, Fanconi Anemia Group D1 Complementing Protein, Fanconi Anemia Group D1 Protein
Czech protein BRCA2
Finnish BRCA2-proteiini
Japanese BRCA2遺伝子産物, ファンコニー貧血相補群D1蛋白質, Fanconi貧血相補群D1蛋白質, BRCA2蛋白質
Italian Proteina FANCD1, Prodotto genico BRCA2, Proteina BRCA2
German BRCA PROTEIN 002, BRUSTKREBS GENPRODUKT 02, BRCA2-Protein, Brustkrebs-2-Genprodukt
Polish Białko BRCA2
Croatian Protein BRCA2
Spanish proteína de susceptibilidad al cáncer de mama tipo 2 (sustancia), proteína de susceptibilidad al cáncer de mama tipo 2, Producto del Gen 2 del Cáncer de Mama, Proteína BRCA2, Proteína del Grupo de Complementación D1 de la Anemia de Fanconi
Portuguese Produto do Gene do Câncer de Mama 2, Proteína BRCA2, Proteína do Grupo de Complementação D1 da Anemia de Fanconi
Derived from the NIH UMLS (Unified Medical Language System)

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