Gynecology Book

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BRCA2

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  1. Location
    1. Chromosome 13
  2. Epidemiology
    1. Defective gene connotes:
      1. Breast Cancer risk: 90%
      2. Ovarian Cancer risk: 15-20% (less than BRCA1)
    2. Responsible for a third of hereditary Breast Cancer
    3. Affects Male as well as Female members
  3. References
    1. (1994) Science 265:2088
    2. (1995) Lancet 346:544

BRCA2 Protein (C0294028)

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)
Definition (NCI)BRCA2 putatively functions as a tumor suppressor gene, however, its exact function has not been well characterized. The similarity of, and functional analysis of, BRCA2 and BRCA1 proteins, suggests that these proteins function in the same genetic pathway. BRCA1 and BRCA2 have transcriptional activation potential and the two proteins are associated with the activation of double-strand break repair and/or homologous recombination. The two proteins have been shown to coexist and colocalize in a biochemical complex. (from LocusLink)
Definition (NCI)Encoded by human BRCA2 Gene, the highly charged 3,418-amino acid 384 kD putative tumor suppressor BRCA2 Protein is expressed (G1/S peak) in rapidly proliferating cells in breast, thymus, lung, ovary, and spleen. With no signal sequence, no membrane regions, and little similarity to other proteins, BRCA2 function is not known; a N-terminus similar to JUN activation domain is capable of activating transcription. BRCA2 may regulate cell proliferation and differentiation. BRCA2/BRCA1 may activate double-strand break repair or homologous recombination. BRCA2 may interact as a cofactor with RAD51 DNA-repair protein; the interaction with BRCA2 BRC3 or BRC4 regions blocks nucleoprotein filament formation. BRCA2 may also regulate the location and DNA-binding ability of RAD51. BRCA2 mutations are linked to elevated risk of breast cancer. (from Swiss-Prot, OMIM, and NCI)
ConceptsAmino Acid, Peptide, or Protein (T116) , Biologically Active Substance (T123)
EnglishBRCA PROTEIN 002, BRCA2, BRCA2 Gene Product, BRCA2 Protein, Breast Cancer 2 Gene Product, Breast Cancer 2 Protein, Breast cancer type 2 susceptibility protein, FANCB, FANCD1, FANCD1 Protein, FANCONI ANEMIA COMPLEMENTATION GROUP D 01 PROTEIN, Fanconi Anemia Complementation Group D1 Protein, Fanconi Anemia Group D1 Complementing Protein, Fanconi Anemia Group D1 Protein
Spanishproteína de susceptibilidad al cáncer de mama tipo 2, proteina de susceptibilidad al cancer de mama tipo 2
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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