Journal article

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Florence Le Calvez-Kelm, Fabienne Lesueur, Francesca Damiola, Maxime Vallee, Catherine Voegele, Davit Babikyan, Geoffroy Durand, Nathalie Forey, Sandrine McKay-Chopin, Nivonirina Robinot, Tu Nguyen-Dumont, Alun Thomas, Graham B Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian

Breast Cancer Research | BIOMED CENTRAL LTD | Published : 2011


Awarded by National Cancer Institute, National Institutes of Health (NIH)

Awarded by Canadian Institute for Health Research (CIHR)

Awarded by NIH

Awarded by NIH through Cancer Care Ontario

Awarded by Northern California Cancer Center

Awarded by University of Melbourne

Funding Acknowledgements

We thank David Goldgar for help with familial relative risk calculations and note that a Microsoft Excel-based familial relative risk calculator is available from him at We also thank James McKay for help with mutation screening amplicon design and Mia Hashibe and Deborah Neklason for helpful comments on the manuscript. This work was supported by the National Cancer Institute, National Institutes of Health (NIH) grant R01 CA121245, and Canadian Institute for Health Research (CIHR) grant CRN-87521-IC089832. The Breast CFR was funded by the NIH under RFA-CA-06-503 and through cooperative agreements with Breast CFR members, including Cancer Care Ontario (U01 CA69467), the Northern California Cancer Center (U01 CA69417) and the University of Melbourne (U01 CA69638). 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 Breast CFR, nor does the mention of trade names, commercial products or organizations imply endorsement by the U.S. government or the Breast CFR.