Sigve Nakken
- Post.doc.
Publications 2024
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma
Blood Cancer J, 14 (1), 147
DOI 10.1038/s41408-024-01124-5, PubMed 39191762
Publications 2023
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
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
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
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
Publications 2022
Strategies to inhibit FGFR4 V550L-driven rhabdomyosarcoma
Br J Cancer, 127 (11), 1939-1953
DOI 10.1038/s41416-022-01973-6, PubMed 36097178
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
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
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
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
Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru
Cancers (Basel), 14 (22)
DOI 10.3390/cancers14225603, PubMed 36428697
Publications 2021
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
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
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
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
Publications 2020
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
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
Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes
Cancers (Basel), 12 (7)
DOI 10.3390/cancers12071719, PubMed 32605315
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
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
Publications 2019
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
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
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
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
Publications 2018
Patterns of genomic evolution in advanced melanoma
Nat Commun, 9 (1), 2665
DOI 10.1038/s41467-018-05063-1, PubMed 29991680
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
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
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
Publications 2017
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
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
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
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
GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome
Gigascience, 6 (7), 1-12
DOI 10.1093/gigascience/gix032, PubMed 28459977
Publications 2016
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
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
Publications 2015
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
Nat Commun, 6, 10001
DOI 10.1038/ncomms10001, PubMed 26647970
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
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
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
Publications 2012
CellLineMiner: a knowledge portal for human cell lines
Bioinformation, 8 (22), 1119-22
DOI 10.6026/97320630081119, PubMed 23251048
Publications 2011
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
Publications 2010
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
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
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
Publications 2009
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
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
UniquePrimer - a web utility for design of specific PCR primers and probes
Ann. Microbiol., 59 (2), 391-393
DOI 10.1007/BF03178345
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
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
Publications 2008
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
Publications 2006
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