Germline polymorphisms as modulators of cancer phenotypes
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BioMed Central
Open Access
Commentary
Germline polymorphisms as modulators of cancer phenotypes Patrick Tan1,2 Address: 1Duke-NUS Graduate Medical School, 2 Jalan Bukit Merah, 169547, Singapore and 2Genome Institute of Singapore, 60 Biopolis Street, 138672, Singapore Email: Patrick Tan - [email protected]
Published: 8 September 2008 BMC Medicine 2008, 6:27
doi:10.1186/1741-7015-6-27
Received: 12 August 2008 Accepted: 8 September 2008
This article is available from: http://www.biomedcentral.com/1741-7015/6/27 © 2008 Tan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract Identifying the complete repertoire of genes and genetic variants that regulate the pathogenesis and progression of human disease is a central goal of post-genomic biomedical research. In cancer, recent studies have shown that genome-wide association studies can be successfully used to identify germline polymorphisms associated with an individual's susceptibility to malignancy. In parallel to these reports, substantial work has also shown that patterns of somatic alterations in human tumors can be successfully employed to predict disease prognosis and treatment response. A paper by Van Ness et al. published this month in BMC Medicine reports the initial results of a multi-institutional consortium for multiple myeloma designed to evaluate the role of germline polymorphisms in influencing multiple myeloma clinical outcome. Applying a custom-designed single nucleotide polymorphism microarray to two separate patient cohorts, the investigators successfully identified specific combinations of germline polymorphisms significantly associated with early clinical relapse. These results raise the exciting possibility that besides somatically acquired alterations, germline genetic background may also exert an important influence on cancer patient prognosis and outcome. Future 'personalized medicine' strategies for cancer may thus require incorporating genomic information from both tumor cells and the non-malignant patient genome.
Commentary Germline variations and human health A major advancement of genetic research in recent years has been the explosion of genome-wide association studies (GWAS) in the literature from different investigators and laboratories [1]. The completion of the reference human genome sequence, and its subsequent comparison across different human sub-populations, has identified millions of genetic polymorphisms that differ between different individuals, families, and ethnic groups [2]. With the availability of increasingly affordable chip technologies for interrogating these polymorphisms en masse in individual genomes, it is now possible to consider identifying, on a comprehensive genome-wide scale, all genes and genetic variants associated with human disease.
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