• APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis 

      Stormorken, Astrid T.; Berg, Thomas; Norum, Ole-Jacob Anderssen; Hølmebakk, Toto; Åberg, Kristin; Steigen, Sonja Eriksson; Grindedal, Eli Marie (Journal article; Tidsskriftartikkel; Peer reviewed, 2018-01-24)
      Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas ...
    • Association between copy number variations in the OCA2-HERC2 locus and human eye colour 

      Salvo, Nina Mjølsnes; Janssen, Kirstin; Olsen, Gunn-Hege; Berg, Thomas; Andersen, Jeppe Dyrberg (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-09-29)
      Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2- HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if ...
    • Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals 

      Salvo, Nina Mjølsnes; Andersen, Jeppe Dyrberg; Janssen, Kirstin; Meyer, Olivia Luxford; Berg, Thomas; Børsting, Claus; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-03-11)
      The OCA2-HERC2 region is strongly associated with human pigmentation, especially eye colour. The HERC2 SNP rs12913832 is currently the best-known predictor for blue and brown eye colour. However, in a previous study we found that 43 of 166 Norwegians with the brown eye colour genotype rs12913832:AA or AG, did not have the expected brown eye colour. In this study, we carried out massively parallel ...
    • Biological stain collection – Absorbing paper is superior to cotton swabs 

      Janssen, Kirstin; Aune, Marthe; Olsen, Marita; Olsen, Gunn-Hege; Berg, Thomas (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-14)
      Biological evidence at crime scenes often contains very small amounts of DNA. Therefore, it is important to use the most effective sampling devices and procedures for stain collection. Currently, cotton swabs moistened with water are widely used, also in our laboratory. However, several studies have shown that other methods may be more efficient.<p> <p>In this study, we compared the DNA sampling ...
    • Experimental long-distance haplotyping of OCA2-HERC2 variants 

      Salvo, Nina Mjølsnes; Mathisen, Marie Gule; Janssen, Kirstin; Berg, Thomas; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-10-18)
      The regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832 individuals. Determining the physical linkage of these variants might ...
    • Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway 

      Helland, Åslaug; Russnes, Hege Elisabeth Giercksky; Fagereng, Gro Live; Al-Shibli, Khalid Ibrahim; Andersson, Yvonne; Berg, Thomas; Bjørge, Line; Blix, Egil Støre; Bjerkehagen, Bodil; Brabrand, Sigmund; CAMERON, MARTE; Dalhaug, Astrid; Dietzel, Dalia; Dønnem, Tom; Enerly, Espen; Flobak, Åsmund; Fluge, Sverre; Gilje, Bjørnar; Gjertsen, Bjørn Tore; Grønberg, Bjørn Henning; Grønås, Kari; Guren, Tormod Kyrre; Hamre, Hanne Mari; Haug, Åse; Heinrich, Daniel; Hjortland, Geir Olav; Hovig, Eivind; Hovland, Randi; Iversen, Ann-Charlotte; Janssen, Emiel; Kyte, Jon A; Gythfeldt, Hedda; Lothe, Ragnhild Adelheid; Lund, Jo-Åsmund; Meza, Leonardo Zepeda; Munthe-Kaas, Monica Cheng; Nguyen, Olav Toai Duc; Niehusmann, Pitt; Nilsen, Hilde; Puco, Katarina; Ree, Anne Hansen; Riste, Tonje Bøyum; Semb, Karin; Steinskog, Eli Sihn Samdal; Stensvold, Andreas; Suhrke, Pål; Tennøe, Øyvind Krohn; Tjønnfjord, Geir Erland; Vassbotn, Liv Jorunn; Aas, Eline; Aasebø, Kristine Øverås; Tasken, Kjetil; Smeland, Sigbjørn (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-05-14)
      Background: Matching treatment based on tumour molecular characteristics has revolutionized the treatment of some cancers and has given hope to many patients. Although personalized cancer care is an old concept, renewed attention has arisen due to recent advancements in cancer diagnostics including access to high-throughput sequencing of tumour tissue. Targeted therapies interfering with cancer ...
    • Independent and Tissue-Specific Prognostic Impact of miR-126 in Nonsmall Cell Lung Cancer 

      Dønnem, Tom; Lønvik, Kenneth; Eklo, Katrine; Berg, Thomas; Sørbye, Sveinung Wergeland; Al-Shibli, Khalid Ibrahim; Al-Saad, Samer; Andersen, Sigve; Stenvold, Helge; Bremnes, Roy M.; Busund, Lill-Tove (Journal article; Tidsskriftartikkel; Peer reviewed, 2011)
      Angiogenesis is pivotal in tumor development. Vascular endothelial growth factor-A (VEGF-A) is considered one of the most important angiogenic factors, but lately several microRNAs (miRs) have been associated with vascular development. miR-126 has been related to tumor angiogenesis and in the regulation of VEGF-A. The authors aimed to investigate the prognostic impact of miR-126 and its co-expression ...
    • Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial 

      Rakaee, Mehrdad; Andersen, S.; Giannikou, K.; Paulsen, Erna-Elise; Kilvær, Thomas Karsten; Rasmussen Busund, Lill-Tove; Berg, Thomas; Richardsen, Elin; Lombardi, Ana Paola; Adib, E.; Pedersen, Mona Irene; Tafavvoghi, Masoud; Wahl, Sissel Gyrid Freim; Petersen, R.H.; Bondgaard, A.L.; Yde, C.W.; Baudet, C.; Licht, P.; Lund-Iversen, Marius; Grønberg, Bjørn Henning; Fjellbirkeland, Lars; Helland, Åslaug; Pøhl, M.; Kwiatkowski, D.J.; Dønnem, Tom (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-04-24)
      Background - We aim to implement an immune cell score model in routine clinical practice for resected non-small-cell lung cancer (NSCLC) patients (NCT03299478). Molecular and genomic features associated with immune phenotypes in NSCLC have not been explored in detail.<p> <p>Patients and methods - We developed a machine learning (ML)-based model to classify tumors into one of three categories: ...
    • MicroRNA Signatures in Tumor Tissue Related to Angiogenesis in Non-Small Cell Lung Cancer 

      Dønnem, Tom; Fenton, Christopher Graham; Lønvik, Kenneth; Berg, Thomas; Eklo, Katrine; Andersen, Sigve; Stenvold, Helge; Al-Shibli, Khalid Ibrahim; Al-Saad, Samer; Bremnes, Roy M.; Busund, Lill-Tove (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      Angiogenesis is regarded as a hallmark in cancer development, and anti-angiogenic treatment is presently used in non-small cell lung cancer (NSCLC) patients. MicroRNAs (miRs) are small non-coding, endogenous, single stranded RNAs that regulate gene expression. In this study we aimed to identify significantly altered miRs related to angiogenesis in NSCLC. From a large cohort of 335 NSCLC patients, ...
    • Mutasjonstesting ved ikke-småcellet lungekreft 

      Brustugun, Odd Terje; Helland, Åslaug; Fjellbirkeland, Lars; Kleinberg, Lilach; Ariansen, Sarah Louise; Jebsen, Peter Wilhelm; Scott, Helge; Dønnem, Tom; Bremnes, Roy M.; Berg, Thomas; Grønberg, Bjørn Henning; Dai, Hong Yan; Wahl, Sissel Gyrid Freim; Mangseth, Kjersti; Helgeland, Lars (Journal article; Tidsskriftartikkel; Peer reviewed, 2012-04-30)
      Bakgrunn. Epidermal vekstfaktorreseptor (EGFR) tyrosinkinasehemmere (EGFR-TKI) er en relativt ny klasse legemidler til behandling av ikke-småcellet lungekreft. Den nasjonale faggruppen for lungekreft, Norsk Lunge Cancer Gruppe, anbefaler at pasienter med ikke-småcellet lungekreft testes for mutasjoner i EGFRgenet. Vi rapporterer her erfaringene som er gjort etter at slik testing ble innført i ...
    • Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit 

      Salvo, Nina Mjølsnes; Janssen, Kirstin; Kirsebom, Maria Kristine; Meyer, Olivia Strunge; Berg, Thomas; Olsen, Gunn-Hege (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-24)
      Prediction of eye and hair colour from DNA can be an important investigative tool in forensic cases if conventional DNA profiling fails to match DNA from any known suspects or cannot obtain a hit in a DNA database. The HIrisPlex model for simultaneous eye and hair colour predictions was developed for forensic usage. To genotype a DNA sample, massively parallel sequencing (MPS) has brought new ...
    • The prognostic effect of KRAS mutations in non-small cell lung carcinoma revisited: A norwegian multicentre study 

      Wahl, Sissel Gyrid Freim; Hong, Yan Dai; Emdal, Elisabeth Fritzke; Berg, Thomas; Halvorsen, Tarje Onsøien; Ottestad, Anine Larsen; Lund-Iversen, Marius; Brustugun, Odd; Førde, Dagny; Paulsen, Erna-Elise; Donnem, Tom; Andersen, Sigve; Grønberg, Bjørn Henning; Richardsen, Elin (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-08-26)
      Background: due to emerging therapeutics targeting KRAS G12C and previous reports with conflicting results regarding the prognostic impact of KRAS and KRAS G12C in non-small cell lung cancer (NSCLC), we aimed to investigate the frequency of KRAS mutations and their associations with clinical characteristics and outcome. Since mutation subtypes have different preferences for downstream pathways, we ...
    • Prognostic Impact of MiR-155 in Non-Small Cell Lung Cancer Evaluated by in Situ Hybridization 

      Dønnem, Tom; Eklo, Katrine; Berg, Thomas; Sørbye, Sveinung Wergeland; Lønvik, Kenneth; Al-Saad, Samer; Al-Shibli, Khalid Ibrahim; Andersen, Sigve; Stenvold, Helge; Bremnes, Roy M.; Busund, Lill-Tove (Journal article; Tidsskriftartikkel; Peer reviewed, 2011)
      In recent years, microRNAs (miRNAs) have been found to play an essential role in tumor development. In lung tumorigenesis, targets and pathways of miRNAs are being revealed, and further translational research in this field is warranted. MiR-155 is one of the miRNAs most consistently involved in various neoplastic diseases. We aimed to investigate the prognostic impact of the multifunctional miR-155 ...
    • Stromal Expression of MiR-21 Predicts Biochemical Failure in Prostate Cancer Patients with Gleason Score 6 

      Melbø-Jørgensen, Christian Nordahl; Ness, Nora; Andersen, Sigve; Valkov, Andrey Yurjevich; Dønnem, Tom; Al-Saad, Samer; Kiselev, Yury; Berg, Thomas; Nordby, Yngve; Bremnes, Roy M.; Busund, Lill-Tove; Richardsen, Elin (Journal article; Tidsskriftartikkel; Peer reviewed, 2014)