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Chromosomal karyotype abnormalities are associated with increased risk of hematologic malignancies

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dc.contributor.advisor Carlson, Christopher S en_US Schick, Ursula Martine en_US 2012-09-13T17:31:39Z 2012-09-13 2012 en_US
dc.identifier.other Schick_washington_0250O_10298.pdf en_US
dc.description Thesis (Master's)--University of Washington, 2012 en_US
dc.description.abstract Chromosomal karyotype abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of risk of malignant transformation in individuals without apparent clinical presentation of a hematologic malignancy. To assess the association of large-scale chromosomal karyotype abnormalities and hematologic malignancy diagnosed subsequent to specimen collection, we applied the anomDetectBAF algorithm to Genome Wide Association Study data initially conducted using peripheral blood-derived DNA of 9,934 samples from the Women's Health Initiative (WHI). In this sample, large chromosomal karyotype abnormalities were observed at enrollment in 2.39% of the participants, conferring a 2.40-fold increased risk of hematologic malignancy during the median 12.62-year follow-up period (95% CI = 1.22-4.70, p-value= 0.011). Large putatively mosaic chromosomal karyotype anomalies were associated with a 3.11-fold increased risk of a hematologic malignancy in follow-up (95% CI=1.58-6.15, p-value=1.08e-3). This work suggests that large chromosomal karyotype abnormalities detected incidentally in GWAS data may provide clinically relevant risk information for subsequent hematologic malignancy diagnoses in elderly study participants. en_US
dc.format.mimetype application/pdf en_US
dc.language.iso en_US en_US
dc.rights Copyright is held by the individual authors. en_US
dc.subject en_US
dc.subject.other Epidemiology en_US
dc.subject.other Genetics en_US
dc.subject.other Public health genetics en_US
dc.title Chromosomal karyotype abnormalities are associated with increased risk of hematologic malignancies en_US
dc.type Thesis en_US
dc.embargo.terms Delay release for 2 years -- then make Open Access en_US
dc.embargo.lift 2014-09-03T17:31:39Z

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