title: BCoR-L1 variation and breast cancer.
abstract: BACKGROUND
  BRCA1 is involved in numerous essential processes in the cell, and the effects of BRCA1 dysfunction in breast cancer carcinogenesis are well described. Many of the breast cancer susceptibility genes such as BRCA2, p53, ATM, CHEK2, and BRIP1 encode proteins that interact with BRCA1. BCL6 corepressor-like 1 (BCoR-L1) is a newly described BRCA1-interacting protein that displays high homology to several proteins known to be involved in the fundamental processes of DNA damage repair and transcription regulation. BCoR-L1 has been shown to play a role in transcription corepression, and expression of the X-linked BCoR-L1 gene has been reported to be dysregulated in breast cancer subjects. BCoR-L1 is located on the X chromosome and is subject to X inactivation.
  
  
  METHODS
  We performed mutation analysis of 38 BRCA1/2 mutation-negative breast cancer families with male breast cancer, prostate cancer, and/or haplotype sharing around BCoR-L1 to determine whether there is a role for BCoR-L1 as a high-risk breast cancer predisposition gene. In addition, we conducted quantitative real-time PCR (qRT-PCR) on lymphoblastoid cell lines (LCLs) from the index cases from these families and a number of cancer cell lines to assess the role of BCoR-L1 dysregulation in cancer and cancer families.
  
  
  RESULTS
  Very little variation was detected in the coding region, and qRT-PCR analysis revealed that BCoR-L1 expression is highly variable in cancer-free subjects, high-risk breast cancer patients, and cancer cell lines. We also report the investigation of a new expression control, DIDO1 (death inducer-obliterator 1), that is superior to GAPDH (glyceraldehyde-3-phosphate dehydrogenase) and UBC (ubiquitin C) for analysis of expression in LCLs.
  
  
  CONCLUSIONS
  Our results suggest that BCoR-L1 expression does not play a large role in predisposition to familial breast cancer.
authors: Cancer and Cell Biology Division, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland, Australia, 4006.
authors: Felicity
authors: F
authors: Lose
authors: Jeremy
authors: J
authors: Arnold
authors: David B
authors: DB
authors: Young
authors: Carolyn J
authors: CJ
authors: Brown
authors: Graham J
authors: GJ
authors: Mann
authors: Gulietta M
authors: GM
authors: Pupo
authors: Kum Kum
authors: KK
authors: Khanna
authors: Georgia
authors: G
authors: Chenevix-Trench
authors: Amanda B
authors: AB
authors: Spurdle
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics; D011471:Prostatic Neoplasms / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D014407:Tumor Cells, Cultured; D049951:X Chromosome Inactivation
chemical_list: C521111:BCORL1 protein, human; D019313:BRCA1 Protein; D024682:BRCA2 Protein; D012097:Repressor Proteins
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