1. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.

    Human Molecular Genetics 25(5):1008 (2016) PMID 26740556 PMCID PMC4754045

    Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BC...
  2. The epidemiology of pituitary adenomas in Iceland, 1955-2012: a nationwide population-based study.

    European Journal of Endocrinology 173(5):655 (2015) PMID 26423473

    Pituitary adenomas (PA) are among the most common human neoplasms. To describe the epidemiology and assess the disease burden of clinically significant PAs, population-based studies are needed. Iceland has a small well-defined population. The aim of this study is to describe the epidemiology of ...
  3. Two Phenotypes of Traditional Serrated Adenomas Nationwide Survey in Iceland.

    Anticancer Research 35(9):4929 (2015) PMID 26254390

    Iceland has a total population of 300,000 inhabitants. All patients consulting for symptoms of the lower digestive tract during a four-year period (2003-2006) were subjected to a colonoscopic examination; all polyps were endoscopically removed. Out of the total 3,037 colorectal adenomas (CRAs), ...
  4. Loss-of-function variants in ATM confer risk of gastric cancer.

    Nature Genetics 47(8):906 (2015) PMID 26098866

    Gastric cancer is a serious health problem worldwide, with particularly high prevalence in eastern Asia. Genome-wide association studies (GWAS) in Asian populations have identified several loci that associate with gastric cancer risk. Here we report a GWAS of gastric cancer in a European populat...
  5. Large-scale whole-genome sequencing of the Icelandic population.

    Nature Genetics 47(5):435 (2015) PMID 25807286

    Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotati...
  6. Risk of drug-induced liver injury from tumor necrosis factor antagonists.

    Clinical Gastroenterology and Hepatology 13(3):602 (2015) PMID 25131534

    Antagonists of tumor necrosis factor (anti-TNF agents) can cause drug-induced liver injury (DILI), yet little is known about the level of risk. We identified cases of DILI caused by anti-TNF agents in Iceland, from 2009 through 2013, at the National University Hospital of Iceland (n = 11). We co...
  7. A DNA methylation-based definition of biologically distinct breast cancer subtypes.

    Molecular Oncology 9(3):555 (2015) PMID 25468711

    In cancer, epigenetic states are deregulated and thought to be of significance in cancer development and progression. We explored DNA methylation-based signatures in association with breast cancer subtypes to assess their impact on clinical presentation and patient prognosis. DNA methylation was...
  8. KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence.

    Journal of Clinical Oncology 33(6):634 (2015) PMID 25605837

    Mutated KIT and platelet-derived growth factor alpha gene (PDGFRA) drive GI stromal tumor (GIST) oncogenesis, but the clinical significance of their single mutations is known incompletely. We identified 11 population-based series of patients with GIST through a literature search and pooled indiv...
  9. Tall cell variant of papillary thyroid carcinoma: a population-based study in Iceland.

    Thyroid 25(2):216 (2015) PMID 25322334

    The tall cell variant (TCV) of papillary thyroid carcinoma (PTC) is an aggressive variant of PTC that is believed to have worse outcomes than classical PTC. The objective of this study was to investigate the incidence, survival, and disease recurrence of patients with TCV and compare them with o...
  10. New basal cell carcinoma susceptibility loci.

    Nature Communications 6:6825 (2015) PMID 25855136 PMCID PMC4403348

    In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,...
  11. Aurora A is a prognostic marker for breast cancer arising in BRCA2 mutation carriers.

    The Journal of Pathology: Clinical Research 1(1):33 (2015) PMID 27499891

    Overexpression of the Aurora A kinase has been shown to have prognostic value in breast cancer. Previously, we showed a significant association between AURKA gene amplification and BRCA2 mutation in breast cancer. The aim of this study was to assess the prognostic impact of Aurora A overexpressi...
  12. Incidence of inflammatory bowel disease in Iceland 1995 - 2009. A nationwide population-based study.

    Scandinavian Journal of Gastroenterology 50(11):1368 (2015) PMID 25979112

    We analyzed the incidence of inflammatory bowel disease (IBD) in Iceland for the period 1995-2009. New cases of ulcerative colitis (UC) and Crohn's disease (CD) were retrieved by thorough review of all small and large intestinal pathology reports with any type of inflammation from all the pathol...
  13. Long-term follow-up and liver-related death rate in patients with non-alcoholic and alcoholic related fatty liver disease.

    BMC Gastroenterology 14:166 (2014) PMID 25260964 PMCID PMC4182763

    Few studies have compared the prognosis and liver-related mortality in patients with NAFLD (nonalcoholic fatty liver disease) and AFLD (alcoholic fatty liver disease). We aimed to investigate the etiology and liver-related mortality of patients with liver biopsy verified fatty liver disease in a...
  14. Colon cancer: association of histopathological parameters and patients' survival with clinical presentation.

    Acta Pathologica Microbiologica Scandinavica Se... 121(10):901 (2013) PMID 23654359

    Available data correlating symptoms of colon cancer patients with the severity of the disease are very limited. In a population-based setting, we correlated information on symptoms of colon cancer patients with several pathological tumor parameters and survival. Information on all patients diagn...
  15. Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.

    Breast Cancer Research and Treatment 140(2):375 (2013) PMID 23857704

    It is not well known to what extent carrying a BRCA2 mutation affects the survival of women with breast cancer and prognostic factors among BRCA2-positive women warrant investigation. Using a record linkage approach we compared the long-term survival in carriers and noncarriers of an inherited B...
  16. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

    Nature 497(7450):517 (2013) PMID 23644456

    Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of small effects that contribute to the population diversity in BMD. Here we use BMD as a dichotomous trait...
  17. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.

    Nature Genetics 44(12):1326 (2012) PMID 23104005 PMCID PMC3562711

    In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discov...
  18. Indications and surgical outcome following pulmonary metastasectomy: a nationwide study.

    The Thoracic and Cardiovascular Surgeon 60(6):383 (2012) PMID 22215491

    The aim of this retrospective nationwide study was to investigate indications and surgical outcome after pulmonary metastasectomy (PM) in a well-defined cohort of patients and to calculate the proportion of cancer patients who were operated on. Between 1984 and 2008, 81 patients (age 54.8 years,...
  19. The epidemiology and natural history of primary biliary cirrhosis: a nationwide population-based study.

    European Journal of Gastroenterology and Hepato... 24(7):824 (2012) PMID 22562114

    Very few population-based studies exist on the epidemiology of primary biliary cirrhosis (PBC), and none have been conducted in the last decade. We aimed to determine the epidemiology and prognosis of PBC over the past two decades. Patients were identified by multiple case finding strategies, co...
  20. Association of symptoms of colon cancer patients with tumor location and TNM tumor stage.

    Scandinavian Journal of Gastroenterology 47(7):795 (2012) PMID 22506981

    Colon cancer is the second most common cause of cancer death in Iceland and accounts for 8% of malignancies. We related information on symptoms of colon cancer patients with information on tumor location and pTNM-stage. The study is retrospective and population-based. Information on all patients...