Human Genomics in Development and Disease

Cancer Genetics and Genomics

We have explored the roles of low and high-penetrance variants in risk of human cancers.  We have also developed a molecular signature that is highly predictive of risk of metastasis.

Currently, we are identifying germline risk variants for other radiation toxicities and for cancer susceptibilities.  We are extending the findings of the metastasis molecular signature to understand the health disparity of metastasis risk and to develop a useful clinical tool.


Manhattan Plot Full New
Legend: Plot of -log10 p values from allelic chi-square tests for association of each of the 512,497 single nucleotide polymorphisms (SNPs) with the development of post-radiotherapy erectile dysfunction in African American men treated with radiation therapy for prostate cancer.
Legend: Heatmap showing copy number amplifications and deletions for tumor samples in the metastasis gene signature.  The tumor samples (X axis)
are arranged by subtype and furhter sorted by their metastatic potential score.


Recent Publications

Kerns SL, et al. Genome wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men following radiotherapy for prostate cancer. Internat J Rad Oncol Biol Phys. 78:1292-1300, 2010.

Zeegers MP, et al. Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant. Eur J Hum Genet. 19:118-20, 2011. Rose AE, et al. Integrative genomics identifies molecular alterations that challenge the linear model of melanoma progression. Cancer Res. 71:2561-71, 2011.

Pearlman A, Campbell C, Brooks E, Genshaft A, Shahjahan S, Ittman M, Bova GS, Melamed J, Holcomb I, Schneider RJ, Ostrer H. Clustering based method for developing a genomic copy number alteration signature for predicting the metastatic progression of prostate cancer. J Prob Stat 2012; Article ID 873570 

Kerns SL, Stock R, Stone N, Buckstein M, Shao Y, Campbell C, Rath L, Deruysscher D, Lammering G, Hixson R, Cesaretti J, Terk M, Ostrer H, Rosenstein BS. A 2-Stage Genome-Wide Association Study to Identify Single Nucleotide Polymorphisms Associated With Development of Erectile Dysfunction Following Radiation Therapy for Prostate Cancer. Int J Radiat Oncol Biol Phys. 85(1):e21-8, 2013.

Kerns SL, Stone NN, Stock RG, Rath L, Ostrer H, Rosenstein BS. A two-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of urinary symptoms following radiotherapy for prostate cancer. Journal of Urology. 2013. in press.


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