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A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence by Alexei Vazquez; Diptee Kulkarni; Lukasz F. Grochola; Gareth L. Bond; Nicola Barnard; Deborah Toppmeyer; Arnold J. Levine; Kim M. Hirshfield is a Medicine article available to read on EtoBox.
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## Abstract A recent candidate gene association study identified a single nucleotide polymorphism (SNP) in the __PPP2R2B__ gene (rs319217, A/G) that manifests allelic differences in the cellular responses to treatment with chemotherapeutic agents (Vazquez et al., Nat Rev Drug Discov 2008;7:979‐87). This gene encodes a regulatory subunit of protein phosphatase 2A (PP2A), one of the major Ser/Thr phosphatases implicated in the negative control of cell growth and division. Given the tumor suppressor activities of PP2A, here we evaluate whether this genetic variant associates with the age of diagnosis and recurrence of breast cancer in women. To investigate the linkage disequilibrium in the vicinity of this SNP, __PPP2R2B__ haplotypes were analyzed using HapMap data for 90 Caucasians. It is found that the A variant of rs319217 tags a haplotype that appears to be under positive selection in the Caucasian population, implying that this SNP is functional. Subsequently, associations with cellular responses were investigated using data reported by the NCI anticancer drug screen and associations with breast cancer clinical variables were analyzed in a cohort of 819 Caucasian women. The A all
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- Author
- Alexei Vazquez; Diptee Kulkarni; Lukasz F. Grochola; Gareth L. Bond; Nicola Barnard; Deborah Toppmeyer; Arnold J. Levine; Kim M. Hirshfield
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square; Test accounts (ISSN 0020-7136)
- Published
- 2010
- Language
- EN
- Field
- Medicine (Health Sciences)