New breast cancer susceptibility gene found

Currently, only about 30% of the familial risk of breast cancer has been explained, leaving the substantial majority still unaccounted for. In a large collaborative study led by Professor Melissa Southey at the University of Melbourne and Associate Professor Sean Tavtigian and Professor David Goldgar at the University of Utah, we found that mutations in a gene called XRCC2, although rare, explain another proportion of breast cancers that run in families where there is no known genetic cause and that particularly occur at an early age.
Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
D.J. Park, F. Lesueur, T. Nguyen-Dumont, M. Pertesi, F. Odefrey, F. Hammet, S.L. Neuhausen, E.M. John, I.L. Andrulis, M.B. Terry, M. Daly, S. Buys, F. Le Calvez-Kelm, A. Lonie, B.J. Pope, H. Tsimiklis, C. Voegele, F.M. Hilbers, N. Hoogerbrugge, A. Barroso, A. Osorio, the Breast Cancer Family Registry, the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, G.G. Giles, P. Devilee, J. Benitez, J.L. Hopper, S.V. Tavtigian, D.E. Goldgar, M.C. Southey.
The American Journal of Human Genetics, Volume 90, Issue 4, 734-739, 29 March 2012. doi:10.1016/j.ajhg.2012.02.027Read moreRead article