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Breast Cancer Research
Published in: Breast Cancer Research 6/2009

Open Access 01-12-2009 | Research article

Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast

Authors: Ana-Teresa Maia, Inmaculada Spiteri, Alvin JX Lee, Martin O'Reilly, Linda Jones, Carlos Caldas, Bruce AJ Ponder

Published in: Breast Cancer Research | Issue 6/2009

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Abstract

Introduction

Normal gene expression variation is thought to play a central role in inter-individual variation and susceptibility to disease. Regulatory polymorphisms in cis-acting elements result in the unequal expression of alleles. Differential allelic expression (DAE) in heterozygote individuals could be used to develop a new approach to discover regulatory breast cancer susceptibility loci. As access to large numbers of fresh breast tissue to perform such studies is difficult, a suitable surrogate test tissue must be identified for future studies.

Methods

We measured differential allelic expression of 12 candidate genes possibly related to breast cancer susceptibility (BRCA1, BRCA2, C1qA, CCND3, EMSY, GPX1, GPX4, MLH3, MTHFR, NBS1, TP53 and TRXR2) in breast tissue (n = 40) and fresh blood (n = 170) of healthy individuals and EBV-transformed lymphoblastoid cells (n = 19). Differential allelic expression ratios were determined by Taqman assay. Ratio distributions were compared using t-test and Wilcoxon rank sum test, for mean ratios and variances respectively.

Results

We show that differential allelic expression is common among these 12 candidate genes and is comparable between breast and blood (fresh and transformed lymphoblasts) in a significant proportion of them. We found that eight out of nine genes with DAE in breast and fresh blood were comparable, as were 10 out of 11 genes between breast and transformed lymphoblasts.

Conclusions

Our findings support the use of differential allelic expression in blood as a surrogate for breast tissue in future studies on predisposition to breast cancer.
Appendix
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Metadata
Title
Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast
Authors
Ana-Teresa Maia
Inmaculada Spiteri
Alvin JX Lee
Martin O'Reilly
Linda Jones
Carlos Caldas
Bruce AJ Ponder
Publication date
01-12-2009
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 6/2009
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr2458

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