Journal article
Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer
EM Wong, MC Southey, SB Fox, MA Brown, JG Dowty, MA Jenkins, GG Giles, JL Hopper, A Dobrovic
Cancer Prevention Research | Published : 2011
Abstract
Women carrying germline mutations in BRCA1 are at a substantially elevated risk of breast cancer and their tumors typically have distinctive morphologic features. We hypothesized that constitutional methylation of the BRCA1 promoter region could give rise to such breast cancers in women. We selected 255 women diagnosed with breast cancer before the age of 40 years for whom BRCA1 germline mutations had not been identified. Of them, 52 had five or more of nine BRCA1 mutation-associated morphologic features (group 1), 39 had four (group 2), and 164 had three or less (group 3). The prevalence of detectable BRCA1 promoter methylation in peripheral blood DNA decreased from 31% to 10% to 5% across ..
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Awarded by National Cancer Institute
Funding Acknowledgements
This study was supported by grants to A. Dobrovic from the U.S. Department of Defense Breast Cancer Research Program under award number W81XWH-06-1-0670, the Cancer Council of Victoria, Susan Komen for the Cure, and the National Breast Cancer Foundation of Australia, and by a grant to M.C. Southey from the Cancer Council of Victoria. The ABCFR was supported by the National Health and Medical Research Council of Australia (NHMRC) [145604], the United States National Institutes of Health (NIH) [CA102740-01A2], and by the United States National Cancer Institute, National Institutes of Health [CA-06-503] through cooperative agreements with members of the BCFR and principal investigators Cancer Care Ontario [CA69467], Columbia University [CA69398], Fox Chase Cancer Center [CA69631], Huntsman Cancer Institute [CA69446], Northern California Cancer Center [CA69417], University of Melbourne [CA69638]. The ABCFR was initially supported by the NHMRC, the New South Wales Cancer Council and the Victorian Health Promotion Foundation. The ABCFR has also received support from the Victorian Breast Cancer Research Consortium of which M. C. Southey and J. L. Hopper are group leaders. J. L. Hopper is an Australia Fellow of the NHMRC. M. C. Southey is a Senior Research Fellow of the NHMRC. E. M. Wong was supported by the Dora Lush postgraduate biomedical scholarship from the NHMRC.