Surgery (St Vincent's) - Research Publications

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COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Southey, MC ; Park, DJ ; Nguyen-Dumont, T ; Campbell, I ; Thompson, E ; Trainer, AH ; Chenevix-Trench, G ; Simard, J ; Dumont, M ; Soucy, P ; Thomassen, M ; Jonson, L ; Pedersen, IS ; Hansen, TVO ; Nevanlinna, H ; Khan, S ; Sinilnikova, O ; Mazoyer, S ; Lesueur, F ; Damiola, F ; Schmutzler, R ; Meindl, A ; Hahnen, E ; Dufault, MR ; Chan, TC ; Kwong, A ; Barkardottir, R ; Radice, P ; Peterlongo, P ; Devilee, P ; Hilbers, F ; Benitez, J ; Kvist, A ; Torngren, T ; Easton, D ; Hunter, D ; Lindstrom, S ; Kraft, P ; Zheng, W ; Gao, Y-T ; Long, J ; Ramus, S ; Feng, B-J ; Weitzel, RN ; Nathanson, K ; Offit, K ; Joseph, V ; Robson, M ; Schrader, K ; Wang, SM ; Kim, YC ; Lynch, H ; Snyder, C ; Tavtigian, S ; Neuhausen, S ; Couch, FJ ; Goldgar, DE (BMC, 2013)

Linkage analysis, positional cloning, candidate gene mutation scanning and genome-wide association study approaches have all contributed significantly to our understanding of the underlying genetic architecture of breast cancer. Taken together, these approaches have identified genetic variation that explains approximately 30% of the overall familial risk of breast cancer, implying that more, and likely rarer, genetic susceptibility alleles remain to be discovered.