Gynecology Book

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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 (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)
Definition (NCI)BRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1 are predicted to be responsible for approximately 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. BRCA1 may function as a transcriptional regulator, due to an amino terminal DNA-binding ring finger motif, nuclear localization signals, and an acidic carboxy terminal domain. BRCA1 is also a granin-like protein that functions as a secreted growth inhibitory protein. BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth. This function is compromised in breast cancer either by direct mutation or by alterations in gene expression. BRCA1 participates in transcription-coupled repair of oxidative DNA damage. (LocusLink)
Definition (NCI)Encoded by human BRCA1 Gene (Granin Family) and expressed in proliferating cells, 1863-amino acid 190-220 kD BRCA1 phosphoprotein contains a N-terminal DNA-binding RING finger, nuclear localization signals, an C-terminal acidic domain, and two C-terminal BRCT domains. Phosphorylation peaks in S/M. BRCA1 is involved in cell cycle arrest transcription, DNA repair, and recombination. CTIP/BRCA1/ZBRK1 regulates GADD45 transcription. BRCA1 inhibits ERA transcription and triggers apoptosis through JNK/SAPK. BRCA1 is part of the BASC DNA repair complex and the SWI/SNF complex. BRCA1 may associate with BRCA2, BARD1 (S phase), RNA Polymerase II via RNA helicase A, and RB1, RBBP7, RBBP4, HDAC1, and HDAC2 (via BRCT domain). CHK2 serine phosphorylates BRCA1. BRCA1 mutations occur in breast and ovarian cancers. (from Swiss-Prot, OMIM, and NCI)
ConceptsAmino Acid, Peptide, or Protein (T116) , Biologically Active Substance (T123)
EnglishBRCA GENE PRODUCT 001, BRCA PROTEIN 001, BRCA1, BRCA1 Gene Product, BRCA1 Protein, Breast Cancer 1 Gene Product, Breast Cancer 1 Protein, Breast cancer type 1 susceptibility protein
Spanishproteína de susceptibilidad al cáncer de mama tipo 1, proteina de susceptibilidad al cancer de mama tipo 1
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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