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BCoR-L1 variation and breast cancer.

Felicity Lose¹, Jeremy Arnold, David B Young

¹Cancer and Cell Biology Division, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland, Australia, 4006.

Breast Cancer Research : BCR

|August 19, 2007

Summary

This study investigated BCL6 corepressor-like 1 (BCoR-L1) in familial breast cancer risk. Results indicate BCoR-L1 expression is unlikely to be a major factor in predisposition to breast cancer.

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Area of Science:

Genetics and Genomics
Cancer Biology
Molecular Oncology

Background:

BRCA1 is crucial in cellular processes and breast cancer. Many breast cancer susceptibility genes interact with BRCA1.
BCL6 corepressor-like 1 (BCoR-L1), a BRCA1-interacting protein, is involved in DNA repair and transcription regulation.
BCoR-L1 gene expression is dysregulated in breast cancer and it is located on the X chromosome, subject to X inactivation.

Purpose of the Study:

To investigate the role of BCoR-L1 as a high-risk breast cancer predisposition gene.
To determine if BCoR-L1 dysregulation contributes to familial breast and prostate cancer.
To analyze BCoR-L1 mutation and expression in BRCA1/2 mutation-negative families.

Main Methods:

Mutation analysis was performed on 38 BRCA1/2 mutation-negative families with specific cancer histories.
Quantitative real-time PCR (qRT-PCR) assessed BCoR-L1 expression in lymphoblastoid cell lines and cancer cell lines.
DIDO1 was identified as a superior reference gene for expression analysis in lymphoblastoid cell lines.

Main Results:

Minimal variation was found in the coding region of BCoR-L1.
BCoR-L1 expression exhibited high variability across cancer-free subjects, high-risk breast cancer patients, and cancer cell lines.
DIDO1 demonstrated superior performance over GAPDH and UBC as an expression control in lymphoblastoid cell lines.

Conclusions:

BCoR-L1 expression does not appear to play a significant role in predisposition to familial breast cancer.
Further research may be needed to fully elucidate the role of BCoR-L1 in cancer biology.
The identification of DIDO1 offers an improved method for gene expression studies in lymphoblastoid cell lines.