Journal article

Rare variants in the ATM gene and risk of breast cancer

David E Goldgar, Sue Healey, James G Dowty, Leonard Da Silva, Xiaoqing Chen, Amanda B Spurdle, Mary Beth Terry, Mary J Daly, Saundra M Buys, Melissa C Southey, Irene Andrulis, Esther M John, Kum Kum Khanna, John L Hopper, Peter J Oefner, Sunil Lakhani, Georgia Chenevix-Trench

Breast Cancer Research | BIOMED CENTRAL LTD | Published : 2011


INTRODUCTION: The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a protein kinase that plays a significant role in the activation of cellular responses to DNA double-strand breaks through subsequent phosphorylation of central players in the DNA damage-response pathway. Recent studies have confirmed that some specific variants in the ATM gene are associated with increased breast cancer (BC) risk. However, the magnitude of risk and the subset of variants that are pathogenic for breast cancer remain unresolved. METHODS: To investigate the role of ATM in BC susceptibility, we studied 76 rare sequence variants in the ATM gene in a case-control family study of 2,570 cases of brea..

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Awarded by National Institutes of Health (NIH)

Awarded by National Cancer Institute, National Institutes of Health

Awarded by Cancer Care Ontario

Awarded by Columbia University

Awarded by Fox Chase Cancer Center

Awarded by Huntsman Cancer Institute

Awarded by Northern California Cancer Center

Awarded by University of Melbourne

Awarded by Georgetown University Informatics Support Center(RFP)

Awarded by National Breast Cancer Foundation and Cancer Australia


Funding Acknowledgements

This work was supported by National Institutes of Health (NIH) grant RO1-CA100352 and R01-CA121245. KKK and GCT are Senior Principal Research Fellows of the NHMRC. The Breast Cancer Family Registry (BCFR) is supported by the National Cancer Institute, National Institutes of Health under RFA-CA-06-503 and through cooperative agreements with members of the BCFR and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Northern California Cancer Center (U01 CA69417), University of Melbourne (U01 CA69638), and the Georgetown University Informatics Support Center (RFP No. N02PC45022-46). Samples from the NCCC, FCCC, and HCI were processed and distributed by the Coriell Institute for Medical Research. The content of this article does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the BCFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government or the BCFR. We 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 2001-2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia 628333) 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.