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Gene Review

BRCA1P1  -  BRCA1 pseudogene 1

Homo sapiens

Synonyms: LBRCA1, PsiBRCA1, pseudo-BRCA1
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Disease relevance of BRCA1P1

  • In the two families with breast and ovarian cancer mentioned above, distinct homologous recombination events occurred between intron 2 of BRCA1 and intron 2 of PsiBRCA1, leading to 37-kb deletions [1].

High impact information on BRCA1P1


Biological context of BRCA1P1


Other interactions of BRCA1P1

  • Surprisingly, we provide evidence that these proteins, like BRCA1 but unlike BRCA2, promote a second DSB repair pathway involving homology, i.e., single-strand annealing [10].
  • CONCLUSIONS: This work confirms that, like BRCA1, the activation function 2 region of the estrogen receptor has more than one distinct chromatin unfolding domain [11].


  1. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Puget, N., Gad, S., Perrin-Vidoz, L., Sinilnikova, O.M., Stoppa-Lyonnet, D., Lenoir, G.M., Mazoyer, S. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Teng, D.H., Bogden, R., Mitchell, J., Baumgard, M., Bell, R., Berry, S., Davis, T., Ha, P.C., Kehrer, R., Jammulapati, S., Chen, Q., Offit, K., Skolnick, M.H., Tavtigian, S.V., Jhanwar, S., Swedlund, B., Wong, A.K., Kamb, A. Nat. Genet. (1996) [Pubmed]
  3. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Chen, J., Silver, D.P., Walpita, D., Cantor, S.B., Gazdar, A.F., Tomlinson, G., Couch, F.J., Weber, B.L., Ashley, T., Livingston, D.M., Scully, R. Mol. Cell (1998) [Pubmed]
  4. Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene. Xu, C.F., Brown, M.A., Nicolai, H., Chambers, J.A., Griffiths, B.L., Solomon, E. Hum. Mol. Genet. (1997) [Pubmed]
  5. NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response. Shang, Y.L., Bodero, A.J., Chen, P.L. J. Biol. Chem. (2003) [Pubmed]
  6. The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. Brown, M.A., Xu, C.F., Nicolai, H., Griffiths, B., Chambers, J.A., Black, D., Solomon, E. Oncogene (1996) [Pubmed]
  7. Structure and phylogenetic analysis of an endogenous retrovirus inserted into the human growth factor gene pleiotrophin. Schulte, A.M., Wellstein, A. J. Virol. (1998) [Pubmed]
  8. Clinical applications of tumor suppressor genes and oncogenes in cancer. Diamandis, E.P. Clin. Chim. Acta (1997) [Pubmed]
  9. X chromosomal abnormalities in basal-like human breast cancer. Richardson, A.L., Wang, Z.C., De Nicolo, A., Lu, X., Brown, M., Miron, A., Liao, X., Iglehart, J.D., Livingston, D.M., Ganesan, S. Cancer Cell (2006) [Pubmed]
  10. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Nakanishi, K., Yang, Y.G., Pierce, A.J., Taniguchi, T., Digweed, M., D'Andrea, A.D., Wang, Z.Q., Jasin, M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  11. Automated microscopy identifies estrogen receptor subdomains with large-scale chromatin structure unfolding activity. Carpenter, A.E., Ashouri, A., Belmont, A.S. Cytometry. Part A : the journal of the International Society for Analytical Cytology. (2004) [Pubmed]
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