Publications (in first author alphabetical order)

Below is a list of publications in peer-reviewed journals arising from the research carried out by the MELGEN ESRs. Where available links to the articles are given. For a number of papers accessible summaries describing the papers contents are available, and links to these are also given.


Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Robles-Espinoza CD, Sankar A, Njauw C-N, Shannon K, Gragoudas ES, Lane AM, Iyer V, Newton-Bishop JA, Bishop DT, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H. Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. J Natl Cancer Inst. 2017 Dec 1;109(12). Available at: https://academic.oup.com/jnci/article/109/12/djx083/3861235

Betancourt* LH, Pawlowski* K, Eriksson* J, A. Szasz* M, Mitra S, Pla I, Welinder C, Ekedahl H, Broberg P, Appelqvist R, Yakovleva M, Sugihara Y, Miharada K, Ingvar C, Lundgren L, Baldetorp B, Olsson H, Rezeli M, Wieslander E, Horvatovich P, Malm J, Jönsson G, Marko-Varga G. Improved survival prognostication of node-positive malignant melanoma patients utilizing shotgun proteomics guided by histopathological characterization and genomic data. Sci Rep. 2019 Mar 26;9(1):5154. * Equal contribution. Available at: https://www.nature.com/articles/s41598-019-41625-z

Cabrita R, Lauss M, Sanna A, Donia M, Skaarup Larsen M, Mitra S, Johansson I, Phung B, Harbst K, Vallon-Christersson J, van Schoiack A, Lövgren K, Warren S, Jirström K, Olsson H, Pietras K, Ingvar C, Isaksson K, Schadendorf D, Schmidt H, Bastholt L, Carneiro A, Wargo JA, Svane IM, Jönsson G. Tertiary lymphoid structures improve immunotherapy and survival in melanoma. Nature. 2020 Jan;577(7791):561-565. Available at: https://www.nature.com/articles/s41586-019-1914-8

Christodoulou E, Visser M, Potjer TP, van der Stoep N, Rodriguez-Girondo M, van Doorn R, Gruis N. Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. Familial Cancer 2019; 18: 439-444.  Available at: https://link.springer.com/article/10.1007%2Fs10689-019-00137-5

Christodoulou E, van Doorn R, Visser M, Teunisse A, Versluis M, van der Velden P, Hayward NK, Jochemsen A, Gruis N. NEK11 as a candidate high-penetrance melanoma susceptibility gene. J Med Genet. 2020 Mar;57(3):203-210. Available at: https://jmg.bmj.com/content/57/3/203.long

Dummer R, Ramelyte E, Schindler S, Thurigen O, Levesque MP, Koelblinger P. MEK inhibition and immune responses in advanced melanoma. Oncoimmunology. 2017 Aug 10;6(8):e1335843. Available at: https://www.tandfonline.com/doi/full/10.1080/2162402X.2017.1335843   Summary: Dummer, et al

Filia A, Droop A, Harland M, Thygesen H, Randerson-Moor J, Snowden H, Taylor C, Diaz JMS, Pozniak J, Nsengimana J, Laye J, Newton-Bishop JA, Bishop DT. High-Resolution Copy Number Patterns From Clinically Relevant FFPE Material. Sci Rep. 2019 Jun 20;9(1):8908. Available at: https://www.nature.com/articles/s41598-019-45210-2

Hogan SA, Levesque MP, Cheng PF. Melanoma Immunotherapy: Next-Generation Biomarkers. Front Oncol. 2018 May 29;8:178. Available at: https://www.frontiersin.org/articles/10.3389/fonc.2018.00178/full   Summary: Hogan, et al

Hogan SA, Courtier A, Cheng PF, Jaberg-Bentele NF, Goldinger SM, Manuel M, Perez S, Plantier N, Mouret JF, Nguyen-Kim TDL, Raaijmakers MIG, Kvistborg P, Pasqual N, Haanen JBAG, Dummer R, Levesque MP. Peripheral blood TCR repertoire profiling may facilitate patient stratification for immunotherapy against melanoma. Cancer Immunol Res. 2019; 7(1):77-85. Available at: https://cancerimmunolres.aacrjournals.org/content/7/1/77   Summary: Hogan, et al

Horn S, Leonardelli S, Sucker A, Schadendorf D, Griewank KG, Paschen A. Tumor CDKN2A-Associated JAK2 Loss and Susceptibility to Immunotherapy Resistance. J Natl Cancer Inst. 2018 Jun 1;110(6):677-681. Available at: https://academic.oup.com/jnci/article/110/6/677/4780396   Summary: Horn, et al

Juraleviciute M, Pozniak J, Nsengimana J, Harland M,  Randerson-Moor J, Wernhoff P, Bassarova A, Øy G.F, Trøen G, Flørenes VA, Bishop DT, Herlyn M, Newton-Bishop J, Slipicevic A. MX 2 is a novel regulator of cell cycle in melanoma cells. Pigment Cell Melanoma Res. 2019; 00: 1– 12. Available at: https://onlinelibrary.wiley.com/doi/full/10.1111/pcmr.12837

Krieg C, Nowicka M, Guglietta S, Schindler S, Hartmann FJ, Weber LM, Dummer R, Robinson MD, Levesque MP, Becher B. High-dimensional single-cell analysis predicts response to anti-PD-1 immunotherapy. Nat Med. 2018; 24(2):144-153. Available at: https://www.nature.com/articles/nm.4466.    Summary: Krieg, et al   Erratum in: Nat Med. 2018; 24(11):1773-1775.

Lauss M, Donia M, Harbst K, Andersen R, Mitra S, Rosengren F, Salim M, Vallon-Christersson J, Törngren T, Kvist A, Ringnér M, Svane IM, Jönsson G. Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma. Nat Commun. 2017 Nov 23;8(1):1738. Available at: https://www.nature.com/articles/s41467-017-01460-0    Summary: Lauss, et al

Metri R, Mohan A, Nsengimana J, Pozniak J, Molina-Paris C, Newton-Bishop J, Bishop D, Chandra N. Identification of a gene signature for discriminating metastatic from primary melanoma using a molecular interaction network approach. Sci Rep. 2017 Dec 11;7(1):17314. Available at: https://www.nature.com/articles/s41598-017-17330-0

Metzenmacher M, Váraljai R, Hegedüs B, Cima I, Forster J, Schramm A, Scheffler B, Horn PA, Klein C, Szarvas T, Reis H, Bielefeld N, Roesch A, Aigner C, Kunzmann V, Wiesweg M, Siveke JT, Schuler M, Lueong SS. Plasma next generation sequencing and droplet digital-qPCR-based quantification of circulating cell-free RNA for noninvasive early detection of cancer. Cancers (Basel). 2020 Feb 4;12(2). pii: E353. Available at: https://www.mdpi.com/2072-6694/12/2/353

Mitra S, Lauss M, Cabrita R, Choi J, Zhang T, Isaksson K, Olsson H, Ingvar C, Carneiro A, Staaf J, Ringnér M, Nielsen K, Brown KM, Jönsson G. Analysis of DNA methylation-based tumour immune microenvironment patterns in metastatic melanoma. Mol Oncol. 2020 Mar 9; doi:10.1002/1878-0261.12663. https://febs.onlinelibrary.wiley.com/doi/10.1002/1878-0261.12663

Muralidhar S, Filia A, Nsengimana J, Poźniak J, O’Shea SJ, Diaz JM, Harland M, Randerson-Moor JA, Reichrath J, Laye JP, van der Weyden L, Adams DJ, Bishop DT, Newton-Bishop J. Vitamin D-VDR signaling inhibits Wnt/beta-catenin-mediated melanoma progression and promotes anti-tumor immunity. Cancer Res. 2019 Dec 1;79(23):5986-5998. Available at: https://cancerres.aacrjournals.org/content/79/23/5986.

Nsengimana J, Laye J, Filia A, O’Shea S, Muralidhar S, Poźniak J, Droop A, Chan M, Walker C, Parkinson L, Gascoyne J, Mell T, Polso M, Jewell R, Randerson-Moor J, Cook GP, Bishop DT, Newton-Bishop J. β-Catenin-mediated immune evasion pathway frequently operates in primary cutaneous melanomas. J Clin Invest. 2018 May 1;128(5):2048-2063. Available at: https://www.jci.org/articles/view/95351

Phung B, Cieśla M, Sanna A, Guzzi N, Beneventi G, Cao Thi Ngoc P, Lauss M, Cabrita R, Cordero E, Bosch A, Rosengren F, Häkkinen J, Griewank K, Paschen A, Harbst K, Olsson H, Ingvar C, Carneiro A, Tsao H, Schadendorf D, Pietras K, Bellodi C, Jönsson G. The X-Linked DDX3X RNA Helicase Dictates Translation Reprogramming and Metastasis in Melanoma. Cell Rep. 2019 Jun 18;27(12):3573-3586.e7. Available at: https://www.sciencedirect.com/science/article/pii/S2211124719306989

Pieper N, Zaremba A, Leonardelli S, Harbers FN, Schwamborn M, Lübcke S, Schrörs B, Baingo J, Schramm A, Haferkamp S, Seifert U, Sucker A, Lennerz V, Wölfel T, Schadendorf D, Schilling B, Paschen A, Zhao F. Evolution of melanoma cross-resistance to CD8+ T cells and MAPK inhibition in the course of BRAFi treatment. Oncoimmunology. 2018 Apr 18;7(8):e1450127. Available at: https://www.tandfonline.com/doi/full/10.1080/2162402X.2018.1450127   Summary: Pieper, et al

Poźniak J, Nsengimana J, Laye JP, O’Shea SJ, Diaz JMS, Droop AP, Filia A, Harland M, Davies JR, Mell T, Randerson-Moor JA, Muralidhar S, Hogan SA, Freiberger SN, Levesque MP, Cook GP, Bishop DT, Newton-Bishop J. Genetic and Environmental Determinants of Immune Response to Cutaneous Melanoma. Cancer Res. 2019 May 15;79(10):2684-2696. Available at: https://cancerres.aacrjournals.org/content/79/10/2684  Summary: Poźniak, et al

Ramelyte E, Schindler SA, Dummer R. The safety of anti PD-1 therapeutics for the treatment of melanoma. Expert Opin Drug Saf. 2017 Jan;16(1):41-53. Summary: Ramelyte, et al

Salgado C, Kwesi-Maliepaard EM, Jochemsen AG, Visser M, Harland M, van Leeuwen F, van Doorn R, Gruis N. A novel germline variant in the DOT1L gene co-segregating in a Dutch family with a history of melanoma. Melanoma Res. 2019; 29(6):582-589.

Salgado C, Oosting J, Janssen B, Kumar R, Gruis N, van Doorn R. Genome-wide characterization of 5-hydoxymethylcytosine in melanoma reveals major differences with nevus. Genes Chromosomes Cancer. 2020 Feb 3. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/gcc.22837

Salgado C, Gruis N, BIOS Consortium, Heijmans BT, Oosting J, van Doorn R. Genome-wide analysis of constitutional DNA methylation in familial melanoma. Clinical Epigenetics 2020. Mar 6; 12(43) https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-020-00831-7

Sanna A, Harbst K, Johansson I, Christensen G, Lauss M, Mitra S, Rosengren F, Häkkinen J, Vallon-Christersson J, Olsson H, Ingvar Å, Isaksson K, Ingvar C, Nielsen K, Jönsson G. Tumour genetic heterogeneity analysis of chronic sun-damaged melanoma. Pigment Cell Melanoma Res. 2019 Dec 7. Available at: https://onlinelibrary.wiley.com/doi/full/10.1111/pcmr.12851

Scholz SL, Möller I, Reis H, Süßkind D, van de Nes JAP, Leonardelli S, Schilling B, Livingstone E, Schimming T, Paschen A, Sucker A, Murali R, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG. Frequent GNAQ, GNA11 , and EIF1AX Mutations in Iris Melanoma. Invest Ophthalmol Vis Sci. 2017 Jul 1;58(9):3464-3470. Available at: http://iovs.arvojournals.org/article.aspx?articleid=2644164

Scholz SL, Cosgarea I, Süßkind D, Murali R, Möller I, Reis H, Leonardelli S, Schilling B, Schimming T, Hadaschik E, Franklin C, Paschen A, Sucker A, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG. NF1 mutations in conjunctival melanoma. Br J Cancer. 2018 May;118(9):1243-1247. Available at: https://www.nature.com/articles/s41416-018-0046-5   Summary: Scholz, et al

Thakur R, Laye JP, Lauss M, Diaz JMS, O’Shea SJ, Poźniak J, Filia A, Harland M, Gascoyne J, Randerson-Moor JA, Chan M, Mell T, Jönsson G, Bishop DT, Newton-Bishop J, Barrett JH. Transcriptomic Analysis Reveals Prognostic Molecular Signatures of Stage I Melanoma. Clin Cancer Res. 2019 Dec 15;25(24):7424-7435. Available at: https://clincancerres.aacrjournals.org/content/25/24/7424

Váraljai R., Wistuba-Hamprecht K., Seremet T., Diaz JMS, Nsengimana J., Sucker A., Griewank K., Placke J-M., Horn P.A., von Neuhoff N., Shannan B., Chauvistré H., Vogel F.C.E., Horn S., Becker J.C., Newton-Bishop J., Stang A., Neyns B., Weide B., Schadendorf D., Roesch A. Application of Circulating Cell-Free Tumor DNA Profiles for Therapeutic Monitoring and Outcome Prediction in Genetically Heterogeneous Metastatic Melanoma. JCO Precision Oncology 2019; :3, 1-10. Available at: https://ascopubs.org/doi/10.1200/PO.18.00229  Summary: Váraljai, et al