Journal article
Detecting differential allelic expression using high-resolution melting curve analysis: Application to the breast cancer susceptibility gene CHEK2
T Nguyen-Dumont, LP Jordheim, J Michelon, N Forey, S McKay-Chopin, O Sinilnikova, F Le Calvez-Kelm, MC Southey, SV Tavtigian, F Lesueur
BMC Medical Genomics | BIOMED CENTRAL LTD | Published : 2011
Abstract
Background: The gene CHEK2 encodes a checkpoint kinase playing a key role in the DNA damage pathway. Though CHEK2 has been identified as an intermediate breast cancer susceptibility gene, only a small proportion of high-risk families have been explained by genetic variants located in its coding region. Alteration in gene expression regulation provides a potential mechanism for generating disease susceptibility. The detection of differential allelic expression (DAE) represents a sensitive assay to direct the search for a functional sequence variant within the transcriptional regulatory elements of a candidate gene. We aimed to assess whether CHEK2 was subject to DAE in lymphoblastoid cell lin..
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Grants
Awarded by National Breast Cancer Foundation
Funding Acknowledgements
We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. We gratefully acknowledge Arnaud Dumont for his help on developing the R script. TN-D was the recipient of a fellowship from Fondation de France and a Special Trainee Award from the International Agency for Research on Cancer. LPJ was the recipient of a fellowship from Ligue Contre le Cancer - Comite du Rhone. MCS is a National Health and Medical Research Council Senior Research Fellow and Victorian Breast cancer Research Consortium (VBCRC) Group Leader. This work was also supported by the Canadian Institutes of Health Research team grant CRN-87521-IC089832 and by the National Cancer Institute, National Institutes of Health (NIH) grant R01 CA121245.