Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

作者: Sylvia De Brakeleer , Marika Bogdani , Jacques De Grève , Julie Decock , Erica Sermijn

DOI: 10.1016/J.MRFMMM.2007.02.031

关键词: ImmunocytochemistryBreast cancerMolecular biologyBiologyGenome instabilityStainingCancer researchMutationCancerIn vitroBrca1 protein

摘要: Enhanced genomic instability has been recently reported in normal cells derived from BRCA1/2 mutation carriers when placed vitro non-physiological stress conditions. We present here original data which help to explain the observed instability. Leucocytes carriers, sporadic breast cancer patients and controls were prepared for BRCA1 immunocytochemistry. show that containing nuclear dot like structures are detectable about 80% of leucocytes patients, but absent majority as well BRCA2 (also their cells). Our results thus indicate is associated with a down-regulation protein accumulation structures. These suggest addition immunocytochemical or alternative molecular screening strategies might identify women high risk (ovarian) even underlying genetic defect remains undetectable.

参考文章(38)
Sharon B. Cantor, Ralph Scully, Daniel P. Silver, Junjie Chen, David M. Livingston, BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway. Cancer Research. ,vol. 59, ,(1999)
Wen-Hwa Lee, Andrew A. Farmer, Diane C. Jones, Phang-Lang Chen, Yumay Chen, Chi-Fen Chen, BRCA1 Is a 220-kDa Nuclear Phosphoprotein That Is Expressed and Phosphorylated in a Cell Cycle-dependent Manner Cancer Research. ,vol. 56, pp. 3168- 3172 ,(1996)
Petra Schütz, Walther Vogel, Günter Speit, Elke Eberhardt, Rolf Kreienberg, Sylvia Bochum, Andreas Rothfuss, Tanja Volm, Induced Micronucleus Frequencies in Peripheral Lymphocytes as a Screening Test for Carriers of a BRCA1 Mutation in Breast Cancer Families Cancer Research. ,vol. 60, pp. 390- 394 ,(2000)
McManus R, Easton Df, Ormiston W, Daly Pa, Seal S, Wooster R, Collins N, Ford D, Mangion J, Lakhani, Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene. ,vol. 10, pp. 1673- 1675 ,(1995)
Piri L Welcsh, Kelly N Owens, Mary-Claire King, Insights into the functions of BRCA1 and BRCA2. Trends in Genetics. ,vol. 16, pp. 69- 74 ,(2000) , 10.1016/S0168-9525(99)01930-7
D J Bernard-Gallon, M P De Latour, P G Rio, F M Penault-Llorca, D A Favy, C Hizel, J Chassagne, Y J Bignon, Subcellular localization of BRCA1 protein in sporadic breast carcinoma with or without allelic loss of BRCA1 gene International Journal of Oncology. ,vol. 14, pp. 653- 714 ,(1999) , 10.3892/IJO.14.4.653
Andrew Tutt, Alan Ashworth, The relationship between the roles of BRCA genes in DNA repair and cancer predisposition Trends in Molecular Medicine. ,vol. 8, pp. 571- 576 ,(2002) , 10.1016/S1471-4914(02)02434-6
Kristina Trenz, Andreas Rothfuss, Petra Schütz, Günter Speit, Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. ,vol. 500, pp. 89- 96 ,(2002) , 10.1016/S0027-5107(01)00300-1
Céline Baldeyron, Emilie Jacquemin, Julianne Smith, Céline Jacquemont, Isabelle De Oliveira, Sophie Gad, Jean Feunteun, Dominique Stoppa-Lyonnet, Dora Papadopoulo, A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining Oncogene. ,vol. 21, pp. 1401- 1410 ,(2002) , 10.1038/SJ.ONC.1205200