Research Topics
Genomes and Genes
| Simon N StaceySummaryAffiliation: deCODE Genetics Country: Iceland Publications
| Collaborators
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Detail Information
Publications
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancerSimon N Stacey
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:703-6. 2008..The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer...
The BARD1 Cys557Ser variant and breast cancer risk in IcelandSimon N Stacey
deCODE Genetics, Reykjavik, Iceland
PLoS Med 3:e217. 2006..We then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer...- Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locusSimon N Stacey
deCODE Genetics, Reykjavik, Iceland
PLoS Genet 6:e1001029. 2010..These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping... 
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancerSimon N Stacey
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:865-9. 2007..rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone...- New common variants affecting susceptibility to basal cell carcinomaSimon N Stacey
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:909-14. 2009..Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma... - A germline variant in the TP53 polyadenylation signal confers cancer susceptibilitySimon N Stacey
deCODE Genetics, Reykjavik, Iceland
Nat Genet 43:1098-103. 2011..35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27)... - Sequence variants at the TERT-CLPTM1L locus associate with many cancer typesThorunn Rafnar
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 41:221-7. 2009..However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene... - ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinomaDaniel F Gudbjartsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:886-91. 2008..14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation... - Two newly identified genetic determinants of pigmentation in EuropeansPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:835-7. 2008.... - Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traitsSimon N Stacey
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:1313-8. 2008..Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers... - Parental origin of sequence variants associated with complex diseasesAugustine Kong
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nature 462:868-74. 2009..We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site... - Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancerJulius Gudmundsson
deCODE Genetics, 101 Reykjavik, Iceland
Nat Genet 40:281-3. 2008..23 and 1.15; P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a significantly stronger association with more aggressive, rather than less aggressive, forms of the disease... - A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancerJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 44:1326-9. 2012..26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe... - Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibilityJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:1122-6. 2009..3% of the risk distribution are at a 2.5 times greater risk of developing the disease than members of the general population... - Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer riskThorunn Rafnar
deCODE Genetics, Department of Medical Oncology, Landspitali University Hospital, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
Cancer Res 71:1356-61. 2011..Our data show that 1 or more lung cancer risk variants of genome-wide significance and distinct from the coding variants in TP53BP1 are located at 15q15.2... - Discovery of common variants associated with low TSH levels and thyroid cancer riskJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 44:319-22. 2012..A strong association (P = 9.1 × 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood... - Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetesJulius Gudmundsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:977-83. 2007..Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes... - Genetic correction of PSA values using sequence variants associated with PSA levelsJulius Gudmundsson
deCODE Genetics, IS 101 Reykjavik, Iceland
Sci Transl Med 2:62ra92. 2010..We propose that a personalized PSA cutoff value, based on genotype, should be used when deciding to perform a prostate biopsy... - A variant associated with nicotine dependence, lung cancer and peripheral arterial diseaseThorgeir E Thorgeirsson
deCODE Genetics, 101 Reykjavik, Iceland
Nature 452:638-42. 2008..The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases... - Mutations in BRIP1 confer high risk of ovarian cancerThorunn Rafnar
deCODE Genetics, Reykjavik, Iceland
Nat Genet 43:1104-7. 2011..0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer... - Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populationsJulius Gudmundsson
deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
Nat Genet 41:460-4. 2009..33 allele is associated with low concentration of thyroxin (T(4)) and high concentration of triiodothyronine (T(3))... - Genetic determinants of hair, eye and skin pigmentation in EuropeansPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:1443-52. 2007..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R... - Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24Julius Gudmundsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:631-7. 2007..The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis... - European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility geneThorunn Rafnar
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Hum Mol Genet 20:4268-81. 2011..If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC... - Genome-wide association study identifies sequence variants on 6q21 associated with age at menarchePatrick Sulem
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:734-8. 2009..Given the link between body fat and AAM, we also assessed 11 variants recently associated with higher body mass index (BMI) and 5 of those associated with earlier AAM... - Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumptionPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Hum Mol Genet 20:2071-7. 2011..AHR detects xenobiotics, such as polycyclic aryl hydrocarbons found in roasted coffee, and induces transcription of CYP1A1 and CYP1A2. The association of these SNPs with coffee consumption was present in both smokers and non-smokers... - Safety and immunogenicity of TA-HPV, a recombinant vaccinia virus expressing modified human papillomavirus (HPV)-16 and HPV-18 E6 and E7 genes, in women with progressive cervical cancerAndreas M Kaufmann
Frauenklinik, Friedrich Schiller University of Jena, 07743 Jena, Germany
Clin Cancer Res 8:3676-85. 2002....