Berta Saez

Publications (18)535.34 Total impact

• Article: Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

  Thorgeir E Thorgeirsson, Daniel F Gudbjartsson, Ida Surakka, Jacqueline M Vink, Najaf Amin, Frank Geller, Patrick Sulem, Thorunn Rafnar, Tõnu Esko, Stefan Walter, [......], Ben A Oostra, Dorret I Boomsma, Henning Tiemeier, Cornelia M van Duijn, Jaakko Kaprio, Jeffrey R Gulcher, Mark I McCarthy, Leena Peltonen, Unnur Thorsteinsdottir, Kari Stefansson
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  ABSTRACT: Smoking is a common risk factor for many diseases. We conducted genome-wide association meta-analyses for the number of cigarettes smoked per day (CPD) in smokers (n = 31,266) and smoking initiation (n = 46,481) using samples from the ENGAGE Consortium. In a second stage, we tested selected SNPs with in silico replication in the Tobacco and Genetics (TAG) and Glaxo Smith Kline (Ox-GSK) consortia cohorts (n = 45,691 smokers) and assessed some of those in a third sample of European ancestry (n = 9,040). Variants in three genomic regions associated with CPD (P < 5 x 10(-8)), including previously identified SNPs at 15q25 represented by rs1051730[A] (effect size = 0.80 CPD, P = 2.4 x 10(-69)), and SNPs at 19q13 and 8p11, represented by rs4105144[C] (effect size = 0.39 CPD, P = 2.2 x 10(-12)) and rs6474412-T (effect size = 0.29 CPD, P = 1.4 x 10(-8)), respectively. Among the genes at the two newly associated loci are genes encoding nicotine-metabolizing enzymes (CYP2A6 and CYP2B6) and nicotinic acetylcholine receptor subunits (CHRNB3 and CHRNA6), all of which have been highlighted in previous studies of smoking and nicotine dependence. Nominal associations with lung cancer were observed at both 8p11 (rs6474412[T], odds ratio (OR) = 1.09, P = 0.04) and 19q13 (rs4105144[C], OR = 1.12, P = 0.0006).
  Nature Genetics 05/2010; 42(5):448-53. · 35.53 Impact Factor
• Article: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.

  Xifeng Wu, Yuanqing Ye, Lambertus A Kiemeney, Patrick Sulem, Thorunn Rafnar, Giuseppe Matullo, Daniela Seminara, Teruhiko Yoshida, Norihisa Saeki, Angeline S Andrew, [......], Tadeusz Majewski, H Barton Grossman, Steinunn Thorlacius, Unnur Thorsteinsdottir, Katja K H Aben, J Alfred Witjes, Kari Stefansson, Christopher I Amos, Margaret R Karagas, Jian Gu
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  ABSTRACT: We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus.
  Nature Genetics 09/2009; 41(9):991-5. · 35.53 Impact Factor
• Article: Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.

  Julius Gudmundsson, Patrick Sulem, Daniel F Gudbjartsson, Thorarinn Blondal, Arnaldur Gylfason, Bjarni A Agnarsson, Kristrun R Benediktsdottir, Droplaug N Magnusdottir, Gudbjorg Orlygsdottir, Margret Jakobsdottir, [......], William J Catalona, Jose I Mayordomo, Lambertus A Kiemeney, Jeffrey R Smith, Johanna Schleutker, Rosa B Barkardottir, Augustine Kong, Unnur Thorsteinsdottir, Thorunn Rafnar, Kari Stefansson
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  ABSTRACT: We report a prostate cancer genome-wide association follow-on study. We discovered four variants associated with susceptibility to prostate cancer in several European populations: rs10934853[A] (OR = 1.12, P = 2.9 x 10(-10)) on 3q21.3; two moderately correlated (r2 = 0.07) variants, rs16902094[G] (OR = 1.21, P = 6.2 x 10(-15)) and rs445114[T] (OR = 1.14, P = 4.7 x 10(-10)), on 8q24.21; and rs8102476[C] (OR = 1.12, P = 1.6 x 10(-11)) on 19q13.2. We also refined a previous association signal on 11q13 with the SNP rs11228565[A] (OR = 1.23, P = 6.7 x 10(-12)). In a multivariate analysis using 22 prostate cancer risk variants typed in the Icelandic population, we estimated that carriers in the top 1.3% of the risk distribution are at a 2.5 times greater risk of developing the disease than members of the general population.
  Nature Genetics 09/2009; 41(10):1122-6. · 35.53 Impact Factor
• Source

  Available from: Mario Santinami

  Article: New common variants affecting susceptibility to basal cell carcinoma.

  Simon N Stacey, Patrick Sulem, Gisli Masson, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, [......], José I Mayordomo, Rajiv Kumar, Margaret R Karagas, Heather H Nelson, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Jon H Olafsson, Augustine Kong, Kari Stefansson
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  ABSTRACT: In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
  Nature Genetics 09/2009; 41(8):909-14. · 35.53 Impact Factor
• Article: Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.

  Julius Gudmundsson, Patrick Sulem, Daniel F Gudbjartsson, Jon G Jonasson, Asgeir Sigurdsson, Jon T Bergthorsson, Huiling He, Thorarinn Blondal, Frank Geller, Margret Jakobsdottir, [......], Jeffrey R Gulcher, Thorvaldur Jonsson, Thorunn Rafnar, Hannes Hjartarsson, Jose I Mayordomo, Albert de la Chapelle, Jon Hrafnkelsson, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: In order to search for sequence variants conferring risk of thyroid cancer we conducted a genome-wide association study in 192 and 37,196 Icelandic cases and controls, respectively, followed by a replication study in individuals of European descent. Here we show that two common variants, located on 9q22.33 and 14q13.3, are associated with the disease. Overall, the strongest association signals were observed for rs965513 on 9q22.33 (OR = 1.75; P = 1.7 x 10(-27)) and rs944289 on 14q13.3 (OR = 1.37; P = 2.0 x 10(-9)). The gene nearest to the 9q22.33 locus is FOXE1 (TTF2) and NKX2-1 (TTF1) is among the genes located at the 14q13.3 locus. Both variants contribute to an increased risk of both papillary and follicular thyroid cancer. Approximately 3.7% of individuals are homozygous for both variants, and their estimated risk of thyroid cancer is 5.7-fold greater than that of noncarriers. In a study on a large sample set from the general population, both risk alleles are associated with low concentrations of thyroid stimulating hormone (TSH), and the 9q22.33 allele is associated with low concentration of thyroxin (T(4)) and high concentration of triiodothyronine (T(3)).
  Nature Genetics 03/2009; 41(4):460-4. · 35.53 Impact Factor
• Article: Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

  Julius Gudmundsson, Patrick Sulem, Daniel F Gudbjartsson, Jon G Jonasson, Asgeir Sigurdsson, Jon T Bergthorsson, Huiling He, Thorarinn Blondal, Frank Geller, Margret Jakobsdottir, [......], Jeffrey R Gulcher, Thorvaldur Jonsson, Thorunn Rafnar, Hannes Hjartarsson, Jose I Mayordomo, Albert de la Chapelle, Jon Hrafnkelsson, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: In order to search for sequence variants conferring risk of thyroid cancer we conducted a genome-wide association study in 192 and 37,196 Icelandic cases and controls, respectively, followed by a replication study in individuals of European descent. Here we show that two common variants, located on 9q22.33 and 14q13.3, are associated with the disease. Overall, the strongest association signals were observed for rs965513 on 9q22.33 (OR = 1.75;
  Nature Genetics 02/2009; 41(4):460-464. · 35.53 Impact Factor
• Article: Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.

  Lambertus A Kiemeney, Steinunn Thorlacius, Patrick Sulem, Frank Geller, Katja K H Aben, Simon N Stacey, Julius Gudmundsson, Margret Jakobsdottir, Jon T Bergthorsson, Asgeir Sigurdsson, [......], Tony Fletcher, Rajiv Kumar, Giuseppe Matullo, Paolo Vineis, Anne E Kiltie, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Thorunn Rafnar, Kari Stefansson
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  ABSTRACT: We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7)).
  Nature Genetics 10/2008; 40(11):1307-12. · 35.53 Impact Factor
• Article: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.

  Daniel F Gudbjartsson, Patrick Sulem, Simon N Stacey, Alisa M Goldstein, Thorunn Rafnar, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Steinunn G Sveinsdottir, [......], Margaret A Tucker, José I Mayordomo, Eduardo Nagore, Rajiv Kumar, Johan Hansson, Jon H Olafsson, Jeffrey Gulcher, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson
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  ABSTRACT: Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, 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.
  Nature Genetics 08/2008; 40(7):886-91. · 35.53 Impact Factor
• Article: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

  Daniel F Gudbjartsson, Patrick Sulem, Simon N Stacey, Alisa M Goldstein, Thorunn Rafnar, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Steinunn G Sveinsdottir, [......], Margaret A Tucker, Jos|[eacute]| I Mayordomo, Eduardo Nagore, Rajiv Kumar, Johan Hansson, Jon H Olafsson, Jeffrey Gulcher, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson
  Nature Genetics 07/2008; 40(8):1029-1029. · 35.53 Impact Factor
• Article: Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.

  Simon N Stacey, Andrei Manolescu, Patrick Sulem, Steinunn Thorlacius, Sigurjon A Gudjonsson, Gudbjörn F Jonsson, Margret Jakobsdottir, Jon T Bergthorsson, Julius Gudmundsson, Katja K Aben, [......], Christopher A Haiman, Annika Lindblom, Jose I Mayordomo, Lambertus A Kiemeney, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Oskar T Johannsson, Augustine Kong, Kari Stefansson
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  ABSTRACT: We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). 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.
  Nature Genetics 07/2008; 40(6):703-6. · 35.53 Impact Factor
• Source

  Available from: Eduardo Nagore

  Article: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

  Daniel F Gudbjartsson, Patrick Sulem, Simon N Stacey, Alisa M Goldstein, Thorunn Rafnar, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Steinunn G Sveinsdottir, [......], Margaret A Tucker, Jos|[eacute]| I Mayordomo, Eduardo Nagore, Rajiv Kumar, Johan Hansson, Jon H Olafsson, Jeffrey Gulcher, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson
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  ABSTRACT: Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near
  Nature Genetics 05/2008; 40(7):886-891. · 35.53 Impact Factor
• Article: A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

  Thorgeir E Thorgeirsson, Frank Geller, Patrick Sulem, Thorunn Rafnar, Anna Wiste, Kristinn P Magnusson, Andrei Manolescu, Gudmar Thorleifsson, Hreinn Stefansson, Andres Ingason, [......], Lambertus A Kiemeney, Stefan E Matthiasson, Hogni Oskarsson, Thorarinn Tyrfingsson, Daniel F Gudbjartsson, Jeffrey R Gulcher, Steinn Jonsson, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: Smoking is a leading cause of preventable death, causing about 5 million premature deaths worldwide each year. Evidence for genetic influence on smoking behaviour and nicotine dependence (ND) has prompted a search for susceptibility genes. Furthermore, assessing the impact of sequence variants on smoking-related diseases is important to public health. Smoking is the major risk factor for lung cancer (LC) and is one of the main risk factors for peripheral arterial disease (PAD). Here we identify a common variant in the nicotinic acetylcholine receptor gene cluster on chromosome 15q24 with an effect on smoking quantity, ND and the risk of two smoking-related diseases in populations of European descent. The variant has an effect on the number of cigarettes smoked per day in our sample of smokers. The same variant was associated with ND in a previous genome-wide association study that used low-quantity smokers as controls, and with a similar approach we observe a highly significant association with ND. A comparison of cases of LC and PAD with population controls each showed that the variant confers risk of LC and PAD. The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases.
  Nature 05/2008; 452(7187):638-42. · 36.28 Impact Factor
• Article: A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

  Thorgeir E. Thorgeirsson, Frank Geller, Patrick Sulem, Thorunn Rafnar, Anna Wiste, Kristinn P. Magnusson, Andrei Manolescu, Gudmar Thorleifsson, Hreinn Stefansson, Andres Ingason, [......], Lambertus A. Kiemeney, Stefan E. Matthiasson, Hogni Oskarsson, Thorarinn Tyrfingsson, Daniel F. Gudbjartsson, Jeffrey R. Gulcher, Steinn Jonsson, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: Smoking is a leading cause of preventable death, causing about 5 million premature deaths worldwide each year
  Nature 04/2008; 452(7187):638-642. · 36.28 Impact Factor
• Article: Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.

  Julius Gudmundsson, Patrick Sulem, Thorunn Rafnar, Jon T Bergthorsson, Andrei Manolescu, Daniel Gudbjartsson, Bjarni A Agnarsson, Asgeir Sigurdsson, Kristrun R Benediktsdottir, Thorarinn Blondal, [......], Stephen N Thibodeau, William B Isaacs, William J Catalona, Jose I Mayordomo, Lambertus A Kiemeney, Rosa B Barkardottir, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: We conducted a genome-wide SNP association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. Two newly identified variants were shown to be associated with prostate cancer: rs5945572 on Xp11.22 and rs721048 on 2p15 (odds ratios (OR) = 1.23 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.
  Nature Genetics 04/2008; 40(3):281-3. · 35.53 Impact Factor
• Article: Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

  Julius Gudmundsson, Patrick Sulem, Valgerdur Steinthorsdottir, Jon T Bergthorsson, Gudmar Thorleifsson, Andrei Manolescu, Thorunn Rafnar, Daniel Gudbjartsson, Bjarni A Agnarsson, Adam Baker, [......], Eirikur Jonsson, Gudmundur V Einarsson, Jose I Mayordomo, William J Catalona, Lambertus A Kiemeney, Rosa B Barkardottir, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson
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  ABSTRACT: We performed a genome-wide association scan to search for sequence variants conferring risk of prostate cancer using 1,501 Icelandic men with prostate cancer and 11,290 controls. Follow-up studies involving three additional case-control groups replicated an association of two variants on chromosome 17 with the disease. These two variants, 33 Mb apart, fall within a region previously implicated by family-based linkage studies on prostate cancer. The risks conferred by these variants are moderate individually (allele odds ratio of about 1.20), but because they are common, their joint population attributable risk is substantial. One of the variants is in TCF2 (HNF1beta), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5. Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes.
  Nature Genetics 09/2007; 39(8):977-83. · 35.53 Impact Factor
• Source

  Available from: tumorionline.it

  Article: Results of a pilot trial of immunotherapy with dendritic cells pulsed with autologous tumor lysates in patients with advanced cancer.

  Jose Ignacio Mayordomo, Raquel Andres, Maria Dolores Isla, Laura Murillo, Rosana Cajal, Alfonso Yubero, Carmen Blasco, Pilar Lasierra, Luis Palomera, Miguel Angel Fuertes, [......], Pilar Escudero, Alberto Saenz, Javier Godino, Ivan Marco, Berta Saez, Carmen Visus, Laura Asin, Gabriel Valdivia, Luis Larrad, Alejandro Tres
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  ABSTRACT: The purpose of the study was to test the immunological and clinical effects of infusions of dendritic cells pulsed with autologous tumor lysate in patients with advanced cancer. Peripheral blood mononuclear cells from 15 patients with metastatic cancer (melanoma in 10, lung cancer in 2, renal cell carcinoma in 1, sarcoma in 1, breast cancer in 1) were harvested by leukapheresis after mobilization with GM-CSF (5 microg/kg/day s.c. for 4 days). Mononuclear cells were separated and cultured in GM-CSF (1000 U/ml) and interleukin-4 (1000 U/ml) for 7 days. Phenotype was assessed by 2-color flow cytometry and immunocytochemistry. On day 6, dendritic cells were pulsed with 1 g of fresh autologous tumor lysate for 24 h and infused intravenously. Interleukin-2 (6 million IU), interferon a (4 million IU) and GM-CSF (400 microg) were injected s.c. daily for 10 days beginning on the day of dendritic cell infusion. Treatment was repeated every 21 days for 3 courses. The morphology, immunocytochemistry and phenotype of cultured cells was consistent with dendritic cells: intense positivity for HLA-DR and CD86, with negativity for markers of other lineages, including CD3, CD4, CD8 and CD14. More than 5 x 10(7) dendritic cells were injected in all patients. Nine patients developed >5 mm delayed type cutaneous hypersensitivity reactions to tumor lysate+/-GM-CSF after the first immunization (larger than GM-CSF in all cases). Median delayed type cutaneous hypersensitivity to lysate +/- GM-CSF was 3 cm after the third immunization. One melanoma patient with skin, liver, lung and bone metastases had a partial response lasting 8 months (followed by progression in the brain). Seven patients had stable disease for >3 months, and 7 had progression. Infusion of tumor lysate-pulsed dendritic cells induces a strong cell-mediated antitumor immune reaction in patients with advanced cancer and has some clinical activity.
  Tumori 93(1):26-30. · 0.86 Impact Factor
• Article: Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

  Xifeng Wu, Yuanqing Ye, Lambertus A Kiemeney, Patrick Sulem, Thorunn Rafnar, Giuseppe Matullo, Daniela Seminara, Teruhiko Yoshida, Norihisa Saeki, Angeline S Andrew, [......], Tadeusz Majewski, H Barton Grossman, Steinunn Thorlacius, Unnur Thorsteinsdottir, Katja K H Aben, J Alfred Witjes, Kari Stefansson, Christopher I Amos, Margaret R Karagas, Jian Gu
• Source

  Available from: Hjordis Bjarnason

  Article: Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

  Thorunn Rafnar, Patrick Sulem, Simon N Stacey, Frank Geller, Julius Gudmundsson, Asgeir Sigurdsson, Margret Jakobsdottir, Hafdis Helgadottir, Steinunn Thorlacius, Katja K H Aben, [......], Rosa B Barkardottir, Eirikur Jonsson, Steinn Jonsson, Jon H Olafsson, Jeffrey R Gulcher, Gisli Masson, Daniel F Gudbjartsson, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson
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  ABSTRACT: The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. 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.