Characterization of germline copy number variation in high-risk African American families with prostate cancer
Article first published online: 11 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
Volume 73, Issue 6, pages 614–623, May 2013
How to Cite
Ledet, E. M., Hu, X., Sartor, O., Rayford, W., Li, M. and Mandal, D. (2013), Characterization of germline copy number variation in high-risk African American families with prostate cancer. Prostate, 73: 614–623. doi: 10.1002/pros.22602
- Issue published online: 4 APR 2013
- Article first published online: 11 OCT 2012
- Manuscript Accepted: 10 SEP 2012
- Manuscript Received: 7 MAY 2012
- Louisiana Board of Regents. Grant Numbers: LEQSF (2002-05)-RD-A-15, LEQSF (2011)-PFUND-250
- The NCI. Grant Number: 1 RO3 CA97778-01
- The Cancer Research Foundation of America, the Research Enhancement Fund of LSU School of Medicine, the Centers for Disease Control and Prevention. Grant Number: H57/CCH 624034-01
- The Louisiana Cancer Research Consortium
- African American;
- prostate cancer;
- copy number variation;
Prostate cancer is a complex multi-allelic disease and the most common malignancy in men. The incidence of prostate cancer in African American men is more than twice as high as that of any other race. Despite the high prevalence of prostate cancer amongst African American men, this population has been under represented in genetic studies of prostate cancer. Although genomic copy number variations (CNVs) have been detected in prostate tumors, this is the first study describing germline CNVs in African American hereditary prostate cancer families.
Ten high-risk African American families with three or more affected individuals and with an early age of onset were recruited. From these families, 37 individuals, including 23 affected males, and 14 unaffected males, were selected for CNV analysis. Array comparative genomic hybridization was used to characterize germline CNVs unique to African American men with hereditary prostate cancer.
Through common aberration analysis in affected family members; novel CNVs were identified at chromosomes 1p36.13 and 16q23.3. Differential analysis comparing affected and unaffected family members identified 9.4 kb duplication on chromosome 14q32.33 which segregate with prostate cancer patients in these high-risk families.
The duplication at 14q32.33 encompasses IGHG3 gene which has been shown to have both significant gains in copy number as well as overexpression in prostate tumors in African Americans. These CNVs may represent a component of genetic predisposition which contributes to the high prevalence and mortality of prostate cancer in African American men. Prostate 73: 614–623, 2013. © 2012 Wiley Periodicals, Inc.