Journal article
Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry
LD Smith, AA Tesoriero, EM Wong, SJ Ramus, FP O'Malley, AM Mulligan, MB Terry, RT Senie, RM Santella, EM John, IL Andrulis, H Ozcelik, MB Daly, AK Godwin, SS Buys, S Fox, DE Goldgar, GG Giles, JL Hopper, MC Southey
Breast Cancer Research | BIOMED CENTRAL LTD | Published : 2011
DOI: 10.1186/bcr2822
Abstract
Introduction: Selecting women affected with breast cancer who are most likely to carry a germline mutation in BRCA1 and applying the most appropriate test methodology remains challenging for cancer genetics services. We sought to test the value of selecting women for BRCA1 mutation testing on the basis of family history and/or breast tumour morphology criteria as well as the value of testing for large genomic alterations in BRCA1.Methods: We studied women participating in the Breast Cancer Family Registry (BCFR), recruited via population-based sampling, who had been diagnosed with breast cancer before the age of 40 years who had a strong family history of breast or ovarian cancer (n = 187) a..
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Awarded by National Institutes of Health
Funding Acknowledgements
This work was supported by the National Cancer Institute, National Institutes of Health, under RFA-CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators, including Cancer Care Ontario (grant U01 CA69467), Columbia University (grant U01 CA69398), Fox Chase Cancer Center (grant U01 CA69631), Huntsman Cancer Institute (grant U01 CA69446), Northern California Cancer Center (grant U01 CA69417), University of Melbourne (grant U01 CA69638) and Research Triangle Institute Informatics Support Center (RFP N02PC45022-46). The content of this article does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating BCFR centers, nor does the mention of trade names, commercial products or organizations imply endorsement by the U.S. government or the BCFR. JLH is a National Health and Medical Research (NHMRC) Australia Fellow and Victorian Breast Cancer Consortium Group Leader, and MCS is a NHMRC Senior Research Fellow and Victorian Breast Cancer Consortium Group Leader. Multiplex Ligation-dependent Probe Amplification fragments were analysed by the Australian Genome Research Facility (AGRF), Melbourne, Australia. AGRF is funded by the Commonwealth of Australia.