Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.

PubWeight™: 1.46‹?› | Rank: Top 5%

🔗 View Article (PMC 3227560)

Published in Nat Genet on October 09, 2011

Authors

Stuart Macgregor1, Grant W Montgomery, Jimmy Z Liu, Zhen Zhen Zhao, Anjali K Henders, Mitchell Stark, Helen Schmid, Elizabeth A Holland, David L Duffy, Mingfeng Zhang, Jodie N Painter, Dale R Nyholt, Judith A Maskiell, Jodie Jetann, Megan Ferguson, Anne E Cust, Mark A Jenkins, David C Whiteman, Håkan Olsson, Susana Puig, Giovanna Bianchi-Scarrà, Johan Hansson, Florence Demenais, Maria Teresa Landi, Tadeusz Dębniak, Rona Mackie, Esther Azizi, Brigitte Bressac-de Paillerets, Alisa M Goldstein, Peter A Kanetsky, Nelleke A Gruis, David E Elder, Julia A Newton-Bishop, D Timothy Bishop, Mark M Iles, Per Helsing, Christopher I Amos, Qingyi Wei, Li-E Wang, Jeffrey E Lee, Abrar A Qureshi, Richard F Kefford, Graham G Giles, Bruce K Armstrong, Joanne F Aitken, Jiali Han, John L Hopper, Jeffrey M Trent, Kevin M Brown, Nicholas G Martin, Graham J Mann, Nicholas K Hayward

Author Affiliations

1: Queensland Institute of Medical Research, Brisbane, Queensland, Australia. stuart.macgregor@qimr.edu.au

Articles citing this

Melanoma: from mutations to medicine. Genes Dev (2012) 2.59

Zebrafish cancer: the state of the art and the path forward. Nat Rev Cancer (2013) 1.87

Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC). Br J Dermatol (2015) 1.47

In-depth characterization of microRNA transcriptome in melanoma. PLoS One (2013) 1.38

Gene amplification of the histone methyltransferase SETDB1 contributes to human lung tumorigenesis. Oncogene (2013) 1.25

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet (2015) 1.23

The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia. Annu Rev Pathol (2014) 1.22

Evolution of the cancer genome. Trends Genet (2012) 1.22

Haplotype kernel association test as a powerful method to identify chromosomal regions harboring uncommon causal variants. Genet Epidemiol (2013) 1.04

Most common 'sporadic' cancers have a significant germline genetic component. Hum Mol Genet (2014) 1.03

Update on the Epidemiology of Melanoma. Curr Dermatol Rep (2013) 1.01

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nat Commun (2015) 1.01

Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis (2014) 0.98

Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. BMC Cancer (2013) 0.95

Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study. PLoS One (2013) 0.92

Intratumoral genetic heterogeneity in metastatic melanoma is accompanied by variation in malignant behaviors. BMC Med Genomics (2013) 0.91

Genetic comorbidities in Parkinson's disease. Hum Mol Genet (2013) 0.89

Inherited genetic variants associated with occurrence of multiple primary melanoma. Cancer Epidemiol Biomarkers Prev (2015) 0.88

Telomere-regulating genes and the telomere interactome in familial cancers. Mol Cancer Res (2014) 0.87

Histone methyltransferase SETDB1 regulates liver cancer cell growth through methylation of p53. Nat Commun (2015) 0.86

Variants at the 9p21 locus and melanoma risk. BMC Cancer (2013) 0.85

Inherited variation in the PARP1 gene and survival from melanoma. Int J Cancer (2014) 0.85

Major chromosomal breakpoint intervals in breast cancer co-localize with differentially methylated regions. Front Oncol (2012) 0.84

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. Int J Cancer (2014) 0.84

Narrowing the knowledge gaps for melanoma. Ups J Med Sci (2012) 0.84

Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networks. PLoS Genet (2015) 0.83

Histone methyltransferase SETDB1 is required for prostate cancer cell proliferation, migration and invasion. Asian J Androl (2014) 0.83

Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma. Nat Genet (2015) 0.82

The South Asian genome. PLoS One (2014) 0.81

Detailed Analysis of Focal Chromosome Arm 1q and 6p Amplifications in Urothelial Carcinoma Reveals Complex Genomic Events on 1q, and SOX4 as a Possible Auxiliary Target on 6p. PLoS One (2013) 0.79

NUAK2 Amplification Coupled with PTEN Deficiency Promotes Melanoma Development via CDK Activation. Cancer Res (2015) 0.79

Germline determinants of clinical outcome of cutaneous melanoma. Pigment Cell Melanoma Res (2015) 0.78

Identification of a Novel Pathogenic Germline KDR Variant in Melanoma. Clin Cancer Res (2015) 0.78

MHC class I chain-related gene a diversity in patients with cutaneous malignant melanoma from southeastern Spain. Dis Markers (2015) 0.76

Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database. J Invest Dermatol (2014) 0.76

Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways. J Natl Cancer Inst (2016) 0.76

Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies. Pigment Cell Melanoma Res (2013) 0.76

Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma. J Invest Dermatol (2016) 0.76

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population. Pigment Cell Melanoma Res (2013) 0.76

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed Res Int (2014) 0.76

Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. Carcinogenesis (2013) 0.76

Zebrafish Discoveries in Cancer Epigenetics. Adv Exp Med Biol (2016) 0.75

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Med (2017) 0.75

A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF. Nat Genet (2017) 0.75

Zebrafish in Translational Cancer Research: Insight into Leukemia, Melanoma, Glioma and Endocrine Tumor Biology. Genes (Basel) (2017) 0.75

Melanocytic nevi and melanoma: unraveling a complex relationship. Oncogene (2017) 0.75

Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PLoS One (2017) 0.75

Articles cited by this

PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92

A map of human genome variation from population-scale sequencing. Nature (2010) 121.13

Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71

LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet (2010) 9.07

Frequency in relatives for an all-or-none trait. Ann Hum Genet (1971) 8.64

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet (2008) 3.90

Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89

Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset. Nature (2011) 3.37

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nat Genet (2009) 2.65

Confirmation of a BRAF mutation-associated gene expression signature in melanoma. Pigment Cell Res (2007) 1.77

The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures. Twin Res Hum Genet (2008) 1.71

IRF4 variants have age-specific effects on nevus count and predispose to melanoma. Am J Hum Genet (2010) 1.55

Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study. Am J Epidemiol (2009) 1.27

Genetic variants of the ADPRT, XRCC1 and APE1 genes and risk of cutaneous melanoma. Carcinogenesis (2006) 1.09

Analysis of melanoma onset: assessing familial aggregation by using estimating equations and fitting variance components via Bayesian random effects models. Twin Res (2004) 0.90

Genetic variation in DNA repair pathway genes and melanoma risk. DNA Repair (Amst) (2010) 0.90

Articles by these authors

Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02

Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23

Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21

Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08

Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38

Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet (2004) 13.71

Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N Engl J Med (2012) 13.48

Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet (2006) 13.16

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24

High frequency of BRAF mutations in nevi. Nat Genet (2002) 9.95

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet (2010) 9.90

STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med (2007) 9.80

Cancer risk in 680,000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians. BMJ (2013) 9.38

Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57

A versatile gene-based test for genome-wide association studies. Am J Hum Genet (2010) 8.44

Escalation of drug use in early-onset cannabis users vs co-twin controls. JAMA (2003) 8.29

Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94

Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum Mol Genet (2006) 7.90

A tumorigenic subpopulation with stem cell properties in melanomas. Cancer Res (2005) 7.86

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36

A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30

Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol (2011) 7.18

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet (2006) 7.13

Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91

Recent human effective population size estimated from linkage disequilibrium. Genome Res (2007) 6.79

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet (2008) 6.69

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49

Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res (2003) 6.43

A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22

Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. Lancet (2012) 6.21

Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med (2002) 6.19

Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. Mol Cell (2004) 6.08

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med (2010) 6.04

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00

DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet (2009) 5.99

Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet (2004) 5.83

Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet (2012) 5.55

Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet (2008) 5.43

Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med (2008) 5.43