caa a22 4500 445860472 CHVBK 20180317145441.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00439-011-1030-9 doi (NATIONALLICENCE)springer-10.1007/s00439-011-1030-9 Current status of genome-wide association studies in cancer [Elektronische Daten] [Charles Chung, Stephen Chanock] Genome-wide association studies in cancer have already identified over 150 regions associated with two dozen specific cancers. Already, a handful of multi-cancer susceptibility regions have been uncovered, providing new insights into perhaps common mechanisms of carcinogenesis. For each new susceptibility allele, investigators now face the arduous task of interrogating each region beginning with fine mapping prior to pursuing the biological basis for the direct association of one or more variants. It appears that there may be a significant number of common alleles that contribute to the heritability of a specific cancer. Since each region confers a small contribution to the risk for cancer, it is daunting to consider any single nucleotide polymorphism (SNP) as a clinical test. Since the complex genomic architecture of each cancer differs, additional genotyping and sequence analysis will be required to comprehensively catalog susceptibility alleles followed by the formidable task of understanding the interactions between genetic regions as well as the environment. It will be critical to assess the applicability of genetic tests in specific clinical settings, such as when to perform screening tests with calculable risks (e.g., biopsies or chemoprevention), before incorporating SNPs into clinical practice. To advance the current genomic observations to the clinical venue, new studies will need to be designed to validate the utility of known genetic variants in assessing risk for cancer as well as its outcomes. Springer-Verlag (outside the USA), 2011 Chung Charles Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 20892-4608, Bethesda, MD, USA aut Chanock Stephen Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 20892-4608, Bethesda, MD, USA aut Human Genetics Springer-Verlag 130/1(2011-07-01), 59-78 0340-6717 130:1<59 2011 130 439 https://doi.org/10.1007/s00439-011-1030-9 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1030-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chung Charles Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 20892-4608, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Chanock Stephen Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, 20892-4608, Bethesda, MD, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/1(2011-07-01), 59-78 0340-6717 130:1<59 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer