Publications by Sigve Nakken
55 publications found
Original articles
Chromosomal instability and a deregulated cell cycle are intrinsic features of high-risk gastrointestinal stromal tumours with a metastatic potential
Mol Oncol, 17 (11), 2432-2450
DOI 10.1002/1878-0261.13514, PubMed 37622176
Comprehensive interrogation of gene lists from genome-scale cancer screens with oncoEnrichR
Int J Cancer, 153 (10), 1819-1828
DOI 10.1002/ijc.34666, PubMed 37551617
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
EClinicalMedicine, 58, 101909
DOI 10.1016/j.eclinm.2023.101909, PubMed 37181409
screenwerk: a modular tool for the design and analysis of drug combination screens
Bioinformatics, 39 (1)
DOI 10.1093/bioinformatics/btac840, PubMed 36573326
Mutational analysis and protein profiling predict drug sensitivity in multiple myeloma cell lines
Front Oncol, 12, 1040730
DOI 10.3389/fonc.2022.1040730, PubMed 36523963
Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru
Cancers (Basel), 14 (22)
DOI 10.3390/cancers14225603, PubMed 36428697
The cholesterol transport protein GRAMD1C regulates autophagy initiation and mitochondrial bioenergetics
Nat Commun, 13 (1), 6283
DOI 10.1038/s41467-022-33933-2, PubMed 36270994
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Hered Cancer Clin Pract, 20 (1), 36
DOI 10.1186/s13053-022-00241-1, PubMed 36182917
Strategies to inhibit FGFR4 V550L-driven rhabdomyosarcoma
Br J Cancer, 127 (11), 1939-1953
DOI 10.1038/s41416-022-01973-6, PubMed 36097178
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy
Genome Med, 14 (1), 86
DOI 10.1186/s13073-022-01090-2, PubMed 35948919
Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer
Int J Cancer, 149 (11), 1955-1960
DOI 10.1002/ijc.33749, PubMed 34310709
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
J Clin Med, 10 (13)
DOI 10.3390/jcm10132856, PubMed 34203177
Combining a Universal Telomerase Based Cancer Vaccine With Ipilimumab in Patients With Metastatic Melanoma - Five-Year Follow Up of a Phase I/IIa Trial
Front Immunol, 12, 663865
DOI 10.3389/fimmu.2021.663865, PubMed 34046035
The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology
J Pers Med, 11 (5)
DOI 10.3390/jpm11050330, PubMed 33922147
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Genet Med, 23 (4), 705-712
DOI 10.1038/s41436-020-01029-1, PubMed 33257847
Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes
Cancers (Basel), 12 (7)
DOI 10.3390/cancers12071719, PubMed 32605315
Mutational dynamics and immune evasion in diffuse large B-cell lymphoma explored in a relapse-enriched patient series
Blood Adv, 4 (9), 1859-1866
DOI 10.1182/bloodadvances.2019001325, PubMed 32374878
Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer - the MetAction study
Acta Oncol, 59 (7), 733-740
DOI 10.1080/0284186X.2020.1742377, PubMed 32208873
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
Sci Rep, 9 (1), 18555
DOI 10.1038/s41598-019-54517-z, PubMed 31811167
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
Hered Cancer Clin Pract, 17, 28
DOI 10.1186/s13053-019-0127-3, PubMed 31636762
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Genet Med, 22 (1), 15-25
DOI 10.1038/s41436-019-0596-9, PubMed 31337882
Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response
Cold Spring Harb Mol Case Stud, 5 (2)
DOI 10.1101/mcs.a003566, PubMed 30862609
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Hered Cancer Clin Pract, 17, 8
DOI 10.1186/s13053-019-0106-8, PubMed 30858900
Patterns of genomic evolution in advanced melanoma
Nat Commun, 9 (1), 2665
DOI 10.1038/s41467-018-05063-1, PubMed 29991680
Personal Cancer Genome Reporter: variant interpretation report for precision oncology
Bioinformatics, 34 (10), 1778-1780
DOI 10.1093/bioinformatics/btx817, PubMed 29272339
Sample-Index Misassignment Impacts Tumour Exome Sequencing
Sci Rep, 8 (1), 5307
DOI 10.1038/s41598-018-23563-4, PubMed 29593270
Identification of genetic variants for clinical management of familial colorectal tumors
BMC Med Genet, 19 (1), 26
DOI 10.1186/s12881-018-0533-9, PubMed 29458332
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Hered Cancer Clin Pract, 16, 4
DOI 10.1186/s13053-018-0086-0, PubMed 29371908
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Fam Cancer, 17 (1), 141-153
DOI 10.1007/s10689-017-0011-0, PubMed 28608266
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Hered Cancer Clin Pract, 15, 18
DOI 10.1186/s13053-017-0078-5, PubMed 29046738
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Gut, 67 (7), 1306-1316
DOI 10.1136/gutjnl-2017-314057, PubMed 28754778
GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome
Gigascience, 6 (7), 1-12
DOI 10.1093/gigascience/gix032, PubMed 28459977
Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate
ESMO Open, 2 (2), e000158
DOI 10.1136/esmoopen-2017-000158, PubMed 28761742
High number of kinome-mutations in non-small cell lung cancer is associated with reduced immune response and poor relapse-free survival
Int J Cancer, 141 (1), 184-190
DOI 10.1002/ijc.30726, PubMed 28387924
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Gut, 66 (9), 1657-1664
DOI 10.1136/gutjnl-2016-311403, PubMed 27261338
Sequencing of FTO and ALKBH5 in men undergoing infertility work-up identifies an infertility-associated variant and two missense mutations
Fertil Steril, 105 (5), 1170-1179.e5
DOI 10.1016/j.fertnstert.2016.01.002, PubMed 26820768
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
Nat Commun, 6, 10001
DOI 10.1038/ncomms10001, PubMed 26647970
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
Gut, 66 (3), 464-472
DOI 10.1136/gutjnl-2015-309675, PubMed 26657901
Automated amplicon design suitable for analysis of DNA variants by melting techniques
BMC Res Notes, 8, 667
DOI 10.1186/s13104-015-1624-8, PubMed 26559640
BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis
Blood Cancer J, 5 (3), e299
DOI 10.1038/bcj.2015.24, PubMed 25794135
CellLineMiner: a knowledge portal for human cell lines
Bioinformation, 8 (22), 1119-22
DOI 10.6026/97320630081119, PubMed 23251048
Is the brain water channel aquaporin-4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort
Acta Ophthalmol, 91 (1), 88-91
DOI 10.1111/j.1755-3768.2011.02231.x, PubMed 21914143
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855
Impact of DNA physical properties on local sequence bias of human mutation
Hum Mutat, 31 (12), 1316-25
DOI 10.1002/humu.21371, PubMed 20886615
Unstable DNA repair genes shaped by their own sequence modifying phenotypes
J Mol Evol, 70 (3), 266-74
DOI 10.1007/s00239-010-9328-0, PubMed 20213140
Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy
Epilepsy Res, 88 (1), 55-64
DOI 10.1016/j.eplepsyres.2009.09.023, PubMed 19864112
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts
Nucleic Acids Res, 37 (17), 5749-56
DOI 10.1093/nar/gkp590, PubMed 19617376
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Mol Genet Metab, 96 (4), 245-52
DOI 10.1016/j.ymgme.2008.12.014, PubMed 19208450
Large-scale inference of the point mutational spectrum in human segmental duplications
BMC Genomics, 10, 43
DOI 10.1186/1471-2164-10-43, PubMed 19161616
UniquePrimer - a web utility for design of specific PCR primers and probes
Ann. Microbiol., 59 (2), 391-393
DOI 10.1007/BF03178345
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
DOI 10.1111/j.1478-3231.2008.01914.x, PubMed 19018976
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes
Neuroscience, 145 (4), 1273-9
DOI 10.1016/j.neuroscience.2006.09.004, PubMed 17055652
Review articles
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement
Hered Cancer Clin Pract, 21 (1), 19
DOI 10.1186/s13053-023-00263-3, PubMed 37821984
Other articles
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Genet Med, 22 (9), 1569
DOI 10.1038/s41436-020-0892-4, PubMed 32690931
Theses
Inference of molecular mechanisms from sequence patterns in human DNA variation
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 1047, 1 b. (flere pag.)
BIBSYS 102681058, ISBN 978-82-8072-554-7