Publications by authors named "Sigve Nakken"

33Publications

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 2020 Sep;22(9):1569

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-020-0892-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462742PMC
September 2020

Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes.

Cancers (Basel) 2020 Jun 28;12(7). Epub 2020 Jun 28.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, 0424 Oslo, Norway.

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http://dx.doi.org/10.3390/cancers12071719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408466PMC
June 2020

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2020 01 24;22(1):15-25. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371626PMC
January 2020

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 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Sample-Index Misassignment Impacts Tumour Exome Sequencing.

Sci Rep 2018 03 28;8(1):5307. Epub 2018 Mar 28.

Norwegian Cancer Genomics Consortium, Institute for Cancer Research, The Norwegian Radium Hospital/Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41598-018-23563-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871786PMC
March 2018

Personal Cancer Genome Reporter: variant interpretation report for precision oncology.

Bioinformatics 2018 05;34(10):1778-1780

Norwegian Cancer Genomics Consortium, Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Norway.

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http://dx.doi.org/10.1093/bioinformatics/btx817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946881PMC
May 2018

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Fam Cancer 2018 01;17(1):141-153

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-017-0011-0DOI Listing
January 2018

Sequencing of FTO and ALKBH5 in men undergoing infertility work-up identifies an infertility-associated variant and two missense mutations.

Fertil Steril 2016 05 25;105(5):1170-1179.e5. Epub 2016 Jan 25.

Department of Gynecology, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2016.01.002DOI Listing
May 2016

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Nat Commun 2015 Dec 9;6:10001. Epub 2015 Dec 9.

CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1038/ncomms10001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682041PMC
December 2015

Automated amplicon design suitable for analysis of DNA variants by melting techniques.

BMC Res Notes 2015 Nov 11;8:667. Epub 2015 Nov 11.

Department of Tumor Biology, Institute for Cancer Research, The Norwegian Radium Hospital, Montebello, Oslo, 0310, Norway.

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http://dx.doi.org/10.1186/s13104-015-1624-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642734PMC
November 2015

CellLineMiner: a knowledge portal for human cell lines.

Bioinformation 2012 13;8(22):1119-22. Epub 2012 Nov 13.

Department of Tumor Biology, Institute for Cancer Research, Norwegian Radium Hospital - Oslo University Hospital, Norway.

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http://dx.doi.org/10.6026/97320630081119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523228PMC
December 2012

Impact of DNA physical properties on local sequence bias of human mutation.

Hum Mutat 2010 Dec 16;31(12):1316-25. Epub 2010 Nov 16.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Norwegian Radium Hospital, Norway.

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http://dx.doi.org/10.1002/humu.21371DOI Listing
December 2010

Unstable DNA repair genes shaped by their own sequence modifying phenotypes.

J Mol Evol 2010 Mar 6;70(3):266-74. Epub 2010 Mar 6.

Institute of Basic Medical Science, University of Oslo, Norway.

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http://dx.doi.org/10.1007/s00239-010-9328-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846273PMC
March 2010

The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts.

Nucleic Acids Res 2009 Sep 17;37(17):5749-56. Epub 2009 Jul 17.

Centre for Molecular Biology and Neuroscience, Institute of Medical Microbiology, Oslo University Hospital, Rikshospitalet, NO-0027, Oslo, Norway.

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http://dx.doi.org/10.1093/nar/gkp590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761265PMC
September 2009

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

Mol Genet Metab 2009 Apr 10;96(4):245-52. Epub 2009 Feb 10.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO-0027 Oslo, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192080047
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http://dx.doi.org/10.1016/j.ymgme.2008.12.014DOI Listing
April 2009

Large-scale inference of the point mutational spectrum in human segmental duplications.

BMC Genomics 2009 Jan 22;10:43. Epub 2009 Jan 22.

Department of Informatics, University of Oslo, PO Box 1080 Blindern, NO-0316 Oslo, Norway.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-10-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640414PMC
January 2009

ABCB4 sequence variations in young adults with cholesterol gallstone disease.

Liver Int 2009 May 24;29(5):743-7. Epub 2008 Oct 24.

Institute for Experimental Medical Research, Ullevaal University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/j.1478-3231.2008.01914.xDOI Listing
May 2009