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Bruce Gottlieb, Carlos Alvarado, Chunlin Wang, Baback Gharizadeh, Farbod Babrzadeh, Brent Richards, Gerald Batist, Mark Basik, Lenore K. Beitel and Mark Trifiro Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues Human Mutation 34

Version of Record online: 8 MAR 2013 | DOI: 10.1002/humu.22287

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To examine the significance of intra-tumor genetic heterogeneity in breast cancer, a novel next generation sequencing protocol was developed to measure the frequency of distribution of a variable androgen receptor gene (AR) CAG repeat length polymorphism associated with breast cancer risk. The results suggest that preferential selection of preexisting longer CAG repeat variants in breast tissues may be associated with cancer. Thus, identifying the frequency of distribution of variant genes may be essential in determining the genetic basis of oncogenesis.

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