Simon N Stacey

Summary

Affiliation: deCODE Genetics
Country: Iceland

Publications

  1. doi request reprint Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:703-6. 2008
  2. pmc Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    PLoS Genet 6:e1001029. 2010
  3. pmc The BARD1 Cys557Ser variant and breast cancer risk in Iceland
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 3:e217. 2006
  4. pmc A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 43:1098-103. 2011
  5. ncbi request reprint Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:865-9. 2007
  6. pmc New common variants affecting susceptibility to basal cell carcinoma
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 41:909-14. 2009
  7. doi request reprint Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
    Thorunn Rafnar
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:221-7. 2009
  8. doi request reprint ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:886-91. 2008
  9. doi request reprint Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008
  10. pmc Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
    Julius Gudmundsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:281-3. 2008

Detail Information

Publications28

  1. doi request reprint Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon 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...
  2. pmc Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus
    Simon 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...
  3. pmc The BARD1 Cys557Ser variant and breast cancer risk in Iceland
    Simon 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...
  4. pmc A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
    Simon 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)...
  5. ncbi request reprint Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon 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...
  6. pmc New common variants affecting susceptibility to basal cell carcinoma
    Simon 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...
  7. doi request reprint Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
    Thorunn 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...
  8. doi request reprint ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel 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...
  9. doi request reprint Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008
    ....
  10. pmc Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
    Julius 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...
  11. doi request reprint Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
    Simon 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...
  12. pmc Parental origin of sequence variants associated with complex diseases
    Augustine 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...
  13. pmc A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
    Julius 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...
  14. ncbi request reprint Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
    Julius 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...
  15. pmc Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
    Julius 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...
  16. pmc Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk
    Thorunn 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...
  17. pmc Discovery of common variants associated with low TSH levels and thyroid cancer risk
    Julius 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...
  18. pmc Genetic correction of PSA values using sequence variants associated with PSA levels
    Julius 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...
  19. pmc Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations
    Julius 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))...
  20. doi request reprint A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
    Thorgeir 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...
  21. ncbi request reprint Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick 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...
  22. ncbi request reprint Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    Julius 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...
  23. doi request reprint Mutations in BRIP1 confer high risk of ovarian cancer
    Thorunn 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...
  24. pmc European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene
    Thorunn 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...
  25. doi request reprint Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche
    Patrick 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...
  26. pmc Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption
    Patrick 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...
  27. pmc A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
    Christian Praetorius
    Department of Biochemistry and Molecular Biology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland
    Cell 155:1022-33. 2013
    ..Our findings provide a clear example of a noncoding polymorphism that affects a phenotype by modulating a developmental gene regulatory network. ..
  28. ncbi request reprint 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 cancer
    Andreas M Kaufmann
    Frauenklinik, Friedrich Schiller University of Jena, 07743 Jena, Germany
    Clin Cancer Res 8:3676-85. 2002
    ....