The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases Hui C. Tsou,

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The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases Hui C. Tsou, David H.-F. Teng, Xiao Li Ping, Valeria Brancolini, Thaylon Davis, Rong Hu, Xiao Xun Xie, Alexandra C. Gruener, Carolina A. Schrager, Angela M. Christiano, Charis Eng, Peter Steck, Jurg Ott, Sean V. Tavtigian, Monica Peacocke The American Journal of Human Genetics Volume 61, Issue 5, Pages 1036-1043 (November 1997) DOI: 10.1086/301607 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype construction with markers on chromosome 10 in four families with CS The American Journal of Human Genetics 1997 61, 1036-1043DOI: (10.1086/301607) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 2 DNA Sequencing of MMAC1 in a family with CS and early-onset breast cancer. The affected mother (blackened circle) demonstrates a 2-bp insertion (AT) in exon 5, which is not seen in her unaffected brother (unblackened square). Her affected daughter has inherited the AT insertion. The American Journal of Human Genetics 1997 61, 1036-1043DOI: (10.1086/301607) Copyright © 1997 The American Society of Human Genetics Terms and Conditions