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MELanoma GENetics - understanding and biomarking the genetic and immunological determinants of melanoma survival

Deliverables

D6.2

Recruitment of all ESRs

D6.1

Appointment of a project manager

D5.5

15 completed PhD examinations

D7.1

Updated outreach plan

D5.6

A policy document about structured melanoma research training within Europe on the website

D7.5

Final report and case study placed on the MELGEN website

D3.6

Published papers on approaches to statistical/bioinformatics approaches to data

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Publications

β-Catenin–mediated immune evasion pathway frequently operates in primary cutaneous melanomas

Author(s): Jérémie Nsengimana, Jon Laye, Anastasia Filia, Sally O’Shea, Sathya Muralidhar, Joanna Poźniak, Alastair Droop, May Chan, Christy Walker, Louise Parkinson, Joanne Gascoyne, Tracey Mell, Minttu Polso, Rosalyn Jewell, Juliette Randerson-Moor, Graham P. Cook, D. Timothy Bishop, Julia Newton-Bishop
Published in: Journal of Clinical Investigation, Issue 128/5, 2018, Page(s) 2048-2063, ISSN 0021-9738
DOI: 10.1172/JCI95351

Identification of a gene signature for discriminating metastatic from primary melanoma using a molecular interaction network approach

Author(s): Rahul Metri, Abhilash Mohan, Jérémie Nsengimana, Joanna Pozniak, Carmen Molina-Paris, Julia Newton-Bishop, David Bishop, Nagasuma Chandra
Published in: Scientific Reports, Issue 7/1, 2017, Page(s) 17314, ISSN 2045-2322
DOI: 10.1038/s41598-017-17330-0

MX 2 is a novel regulator of cell cycle in melanoma cells

Author(s): Marina Juraleviciute, Joanna Pozniak, Jérémie Nsengimana, Mark Harland, Juliette Randerson‐Moor, Patrik Wernhoff, Assia Bassarova, Geir Frode Øy, Gunhild Trøen, Vivi Ann Flørenes, David Timothy Bishop, Meenhard Herlyn, Julia Newton‐Bishop, Ana Slipicevic
Published in: Pigment Cell & Melanoma Research, 2019, ISSN 1755-1471
DOI: 10.1111/pcmr.12837

Genetic and Environmental Determinants of Immune Response to Cutaneous Melanoma

Author(s): Joanna Poźniak, Jérémie Nsengimana, Jonathan P. Laye, Sally J. O’Shea, Joey Mark S. Diaz, Alastair P. Droop, Anastasia Filia, Mark Harland, John R. Davies, Tracey Mell, Juliette A. Randerson-Moor, Sathya Muralidhar, Sabrina A. Hogan, Sandra Nicole Freiberger, Mitchell P. Levesque, Graham P. Cook, D. Timothy Bishop, Julia Newton-Bishop
Published in: Cancer Research, Issue 79/10, 2019, Page(s) 2684-2696, ISSN 0008-5472
DOI: 10.1158/0008-5472.can-18-2864

Vitamin D–VDR Signaling Inhibits Wnt/β-Catenin–Mediated Melanoma Progression and Promotes Antitumor Immunity

Author(s): Sathya Muralidhar, Anastasia Filia, Jérémie Nsengimana, Joanna Poźniak, Sally J. O'Shea, Joey M. Diaz, Mark Harland, Juliette A. Randerson-Moor, Jörg Reichrath, Jonathan P. Laye, Louise van der Weyden, David J. Adams, D.T. Bishop, Julia Newton-Bishop
Published in: Cancer Research, Issue 79/23, 2019, Page(s) 5986-5998, ISSN 0008-5472
DOI: 10.1158/0008-5472.can-18-3927

High-Resolution Copy Number Patterns From Clinically Relevant FFPE Material

Author(s): Anastasia Filia, Alastair Droop, Mark Harland, Helene Thygesen, Juliette Randerson-Moor, Helen Snowden, Claire Taylor, Joey Mark S. Diaz, Joanna Pozniak, Jérémie Nsengimana, Jon Laye, Julia A. Newton-Bishop, D. Timothy Bishop
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-45210-2

Transcriptomic Analysis Reveals Prognostic Molecular Signatures of Stage I Melanoma

Author(s): Rohit Thakur, Jonathan P. Laye, Martin Lauss, Joey Mark S. Diaz, Sally Jane O'Shea, Joanna Poźniak, Anastasia Filia, Mark Harland, Joanne Gascoyne, Juliette A. Randerson-Moor, May Chan, Tracey Mell, Göran Jönsson, D. Timothy Bishop, Julia Newton-Bishop, Jennifer H. Barrett, Jérémie Nsengimana
Published in: Clinical Cancer Research, Issue 25/24, 2019, Page(s) 7424-7435, ISSN 1078-0432
DOI: 10.1158/1078-0432.ccr-18-3659

Application of Circulating Cell-Free Tumor DNA Profiles for Therapeutic Monitoring and Outcome Prediction in Genetically Heterogeneous Metastatic Melanoma

Author(s): Renáta Váraljai, Kilian Wistuba-Hamprecht, Teofila Seremet, Joey Mark S. Diaz, Jérémie Nsengimana, Antje Sucker, Klaus Griewank, Jan-Malte Placke, Peter A. Horn, Nils von Neuhoff, Batool Shannan, Heike Chauvistré, Felix C. E. Vogel, Susanne Horn, Jürgen C. Becker, Julia Newton-Bishop, Andreas Stang, Bart Neyns, Benjamin Weide, Dirk Schadendorf, Alexander Roesch
Published in: JCO Precision Oncology, Issue 3, 2019, Page(s) 1-10, ISSN 2473-4284
DOI: 10.1200/po.18.00229

Plasma Next Generation Sequencing and Droplet Digital-qPCR-Based Quantification of Circulating Cell-Free RNA for Noninvasive Early Detection of Cancer

Author(s): Metzenmacher, Váraljai, Hegedüs, Cima, Forster, Schramm, Scheffler, Horn, Klein, Szarvas, Reis, Bielefeld, Roesch, Aigner, Kunzmann, Wiesweg, Siveke, Schuler, Lueong
Published in: Cancers, Issue 12/2, 2020, Page(s) 353, ISSN 2072-6694
DOI: 10.3390/cancers12020353

MEK inhibition and immune responses in advanced melanoma

Author(s): Reinhard Dummer, Egle Ramelyte, Sabrina Schindler, Olaf Thürigen, Mitchell P. Levesque, Peter Koelblinger
Published in: OncoImmunology, Issue 6/8, 2017, Page(s) e1335843, ISSN 2162-402X
DOI: 10.1080/2162402X.2017.1335843

Melanoma Immunotherapy: Next-Generation Biomarkers

Author(s): Sabrina A. Hogan, Mitchell P. Levesque, Phil F. Cheng
Published in: Frontiers in Oncology, Issue 8, 2018, ISSN 2234-943X
DOI: 10.3389/fonc.2018.00178

Peripheral Blood TCR Repertoire Profiling May Facilitate Patient Stratification for Immunotherapy against Melanoma

Author(s): Sabrina A. Hogan, Anaïs Courtier, Phil F. Cheng, Nicoletta F. Jaberg-Bentele, Simone M. Goldinger, Manuarii Manuel, Solène Perez, Nadia Plantier, Jean-François Mouret, Thi Dan Linh Nguyen-Kim, Marieke I.G. Raaijmakers, Pia Kvistborg, Nicolas Pasqual, John B.A.G. Haanen, Reinhard Dummer, Mitchell P. Levesque
Published in: Cancer Immunology Research, Issue 7/1, 2019, Page(s) 77-85, ISSN 2326-6066
DOI: 10.1158/2326-6066.CIR-18-0136

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

Author(s): E. Christodoulou, M. Visser, T. P. Potjer, N. van der Stoep, M. Rodríguez-Girondo, R. van Doorn, N. Gruis
Published in: Familial Cancer, Issue 18/4, 2019, Page(s) 439-444, ISSN 1389-9600
DOI: 10.1007/s10689-019-00137-5

NEK11 as a candidate high-penetrance melanoma susceptibility gene

Author(s): Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis
Published in: Journal of Medical Genetics, Issue 57/3, 2020, Page(s) 203-210, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2019-106134

A novel germline variant in the DOT1L gene co-segregating in a Dutch family with a history of melanoma

Author(s): Catarina Salgado, Eliza Mari Kwesi-Maliepaard, Aart G. Jochemsen, Mijke Visser, Mark Harland, Fred van Leeuwen, Remco van Doorn, Nelleke Gruis
Published in: Melanoma Research, Issue 29/6, 2019, Page(s) 582-589, ISSN 0960-8931
DOI: 10.1097/cmr.0000000000000640

Genome‐wide characterization of 5‐hydoxymethylcytosine in melanoma reveals major differences with nevus

Author(s): Catarina Salgado, Jan Oosting, Bart Janssen, Rajiv Kumar, Nelleke Gruis, Remco Doorn
Published in: Genes, Chromosomes and Cancer, 2020, ISSN 1045-2257
DOI: 10.1002/gcc.22837

Tertiary lymphoid structures improve immunotherapy and survival in melanoma

Author(s): Rita Cabrita, Martin Lauss, Adriana Sanna, Marco Donia, Mathilde Skaarup Larsen, Shamik Mitra, Iva Johansson, Bengt Phung, Katja Harbst, Johan Vallon-Christersson, Alison van Schoiack, Kristina Lövgren, Sarah Warren, Karin Jirström, Håkan Olsson, Kristian Pietras, Christian Ingvar, Karolin Isaksson, Dirk Schadendorf, Henrik Schmidt, Lars Bastholt, Ana Carneiro, Jennifer A. Wargo, Inge Marie Sva
Published in: Nature, Issue 577/7791, 2020, Page(s) 561-565, ISSN 0028-0836
DOI: 10.1038/s41586-019-1914-8

High-dimensional single-cell analysis predicts response to anti-PD-1 immunotherapy

Author(s): Carsten Krieg, Malgorzata Nowicka, Silvia Guglietta, Sabrina Schindler, Felix J Hartmann, Lukas M Weber, Reinhard Dummer, Mark D Robinson, Mitchell P Levesque, Burkhard Becher
Published in: Nature Medicine, Issue 24/2, 2018, Page(s) 144-153, ISSN 1078-8956
DOI: 10.1038/nm.4466

The safety of anti PD-1 therapeutics for the treatment of melanoma

Author(s): Egle Ramelyte, Sabrina A. Schindler, Reinhard Dummer
Published in: Expert Opinion on Drug Safety, Issue 16/1, 2016, Page(s) 41-53, ISSN 1474-0338
DOI: 10.1080/14740338.2016.1248402

Tumor genetic heterogeneity analysis of chronic sun‐damaged melanoma

Author(s): Adriana Sanna, Katja Harbst, Iva Johansson, Gustav Christensen, Martin Lauss, Shamik Mitra, Frida Rosengren, Jari Häkkinen, Johan Vallon‐Christersson, Håkan Olsson, Åsa Ingvar, Karolin Isaksson, Christian Ingvar, Kari Nielsen, Göran Jönsson
Published in: Pigment Cell & Melanoma Research, 2019, ISSN 1755-1471
DOI: 10.1111/pcmr.12851

Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma

Author(s): Martin Lauss, Marco Donia, Katja Harbst, Rikke Andersen, Shamik Mitra, Frida Rosengren, Maryem Salim, Johan Vallon-Christersson, Therese Törngren, Anders Kvist, Markus Ringnér, Inge Marie Svane, Göran Jönsson
Published in: Nature Communications, Issue 8/1, 2017, Page(s) 1738, ISSN 2041-1723
DOI: 10.1038/s41467-017-01460-0

The X-Linked DDX3X RNA Helicase Dictates Translation Reprogramming and Metastasis in Melanoma

Author(s): Bengt Phung, Maciej Cieśla, Adriana Sanna, Nicola Guzzi, Giulia Beneventi, Phuong Cao Thi Ngoc, Martin Lauss, Rita Cabrita, Eugenia Cordero, Ana Bosch, Frida Rosengren, Jari Häkkinen, Klaus Griewank, Annette Paschen, Katja Harbst, Håkan Olsson, Christian Ingvar, Ana Carneiro, Hensin Tsao, Dirk Schadendorf, Kristian Pietras, Cristian Bellodi, Göran Jönsson
Published in: Cell Reports, Issue 27/12, 2019, Page(s) 3573-3586.e7, ISSN 2211-1247
DOI: 10.1016/j.celrep.2019.05.069

Improved survival prognostication of node-positive malignant melanoma patients utilizing shotgun proteomics guided by histopathological characterization and genomic data

Author(s): Lazaro Hiram Betancourt, Krzysztof Pawłowski, Jonatan Eriksson, A. Marcell Szasz, Shamik Mitra, Indira Pla, Charlotte Welinder, Henrik Ekedahl, Per Broberg, Roger Appelqvist, Maria Yakovleva, Yutaka Sugihara, Kenichi Miharada, Christian Ingvar, Lotta Lundgren, Bo Baldetorp, Håkan Olsson, Melinda Rezeli, Elisabet Wieslander, Peter Horvatovich, Johan Malm, Göran Jönsson, György Marko-Varga
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-41625-z

Genome-wide analysis of constitutional DNA methylation in familial melanoma

Author(s): Catarina Salgado, Nelleke Gruis, Bastiaan T. Heijmans, Jan Oosting, Remco van Doorn
Published in: Clinical Epigenetics, Issue 12/1, 2020, ISSN 1868-7075
DOI: 10.1186/s13148-020-00831-7

Analysis of DNA methylation patterns in the tumor immune microenvironment of metastatic melanoma

Author(s): Shamik Mitra, Martin Lauss, Rita Cabrita, Jiyeon Choi, Tongwu Zhang, Karolin Isaksson, Håkan Olsson, Christian Ingvar, Ana Carneiro, Johan Staaf, Markus Ringnér, Kari Nielsen, Kevin M. Brown, Göran Jönsson
Published in: Molecular Oncology, 2020, ISSN 1574-7891
DOI: 10.1002/1878-0261.12663

The Role of PTEN Loss in Immune Escape, Melanoma Prognosis and Therapy Response

Author(s): Rita Cabrita, Shamik Mitra, Adriana Sanna, Henrik Ekedahl, Kristina Lövgren, Håkan Olsson, Christian Ingvar, Karolin Isaksson, Martin Lauss, Ana Carneiro, Göran Jönsson
Published in: Cancers, Issue 12/3, 2020, Page(s) 742, ISSN 2072-6694
DOI: 10.3390/cancers12030742

Frequent GNAQ, GNA11 , and EIF1AX Mutations in Iris Melanoma

Author(s): Simone L. Scholz, Inga Möller, Henning Reis, Daniela Süßkind, Johannes A. P. van de Nes, Sonia Leonardelli, Bastian Schilling, Elisabeth Livingstone, Tobias Schimming, Annette Paschen, Antje Sucker, Rajmohan Murali, Klaus-Peter Steuhl, Dirk Schadendorf, Henrike Westekemper, Klaus G. Griewank
Published in: Investigative Opthalmology & Visual Science, Issue 58/9, 2017, Page(s) 3464, ISSN 1552-5783
DOI: 10.1167/iovs.17-21838

PO-493 ctDNA profiles of metastatic melanoma patients under therapy

Author(s): R Varaljai, N Von Neuhoff, A Sucker, J Newton-Bishop, D Schadendorf, A Roesch
Published in: Poster Presentation: Translational Research, Issue 3 (Suppl 2), 2018, Page(s) A423.1-A423
DOI: 10.1136/esmoopen-2018-eacr25.995

PO-399 Tumour CDKN2A loss predisposes to immunotherapy resistance

Author(s): S Leonardelli, S Horn, A Sucker, D Schadendorf, K Griewank, A Paschen
Published in: Genomic Alterations in Cancer, Issue 3 (Suppl 2), 2018, Page(s) A386.1-A386
DOI: 10.1136/esmoopen-2018-eacr25.911

Abstract 5372: The mutational landscape of primary cutaneous melanoma

Author(s): Sofia Y. Chen, Rashid Mamunur, Jon Laye, D. Timothy Bishop, Julia A. Newton-Bishop, David J. Adams
Published in: Molecular and Cellular Biology / Genetics, Issue 78(13 Suppl), 2018, Page(s) 5372-5372
DOI: 10.1158/1538-7445.am2018-5372

Abstract 5204: MYC expression and smoking as drivers of failure of immune response to melanoma

Author(s): Joanna Pozniak, Jeremie Nsengimana, Jon Laye, Sally O'Shea, Sabrina Schindler, Mitch Levesque, Tim Bishop, Julia Newton-Bishop
Published in: Tumor Biology, Issue 78(13 Suppl), 2018, Page(s) 5204-5204
DOI: 10.1158/1538-7445.am2018-5204

SMR Congress 2017 abstracts

Author(s): Abstracts from ESRs: Marina Juraleviciute, Sabrina Schindler
Published in: Pigment Cell & Melanoma Research, Issue 31/1, 2018, Page(s) 125-230, ISSN 1755-1471
DOI: 10.1111/pcmr.12656

ctDNA as a noninvasive monitoring tool in metastatic melanoma.

Author(s): Renata Varaljai, Kilian Wistuba-Hamprecht, Teofila Seremet, Joey Mark Santiago Diaz, Jeremie Nsengimana, Antje Sucker, Klaus Griewank, Peter Horn, Nils von Neuhoff, Batool Shannan, Heike Chauvistré, Felix Christian Eduard Vogel, Susanne Horn, Jürgen C. Becker, Julia Newton-Bishop, Andreas Stang, Bart Neyns, Benjamin Weide, Dirk Schadendorf, Alexander Roesch
Published in: Journal of Clinical Oncology, Issue 37/15_suppl, 2019, Page(s) 9548-9548, ISSN 0732-183X
DOI: 10.1200/jco.2019.37.15_suppl.9548

45th Annual Meeting of the Arbeitsgemeinschaft Dermatologische Forschung (ADF) Zurich, Switzerland, March 7-10, 2018

Author(s): R. Varaljai, N. Neuhoff, A. Sucker, J. Newton‐Bishop, D. Schadendorf, A. Roesch
Published in: Experimental Dermatology, Issue 27/3, 2018, Page(s) e2-e106, ISSN 0906-6705
DOI: 10.1111/exd.13486

SMR Congress 2018 Abstracts

Author(s): Multiple abstracts from multiple ESRs: Joanna Pozniak, Sathya Muralidhar, Rohit Thakur, Joey Mark Diaz, Shamik Mitra, Adriana Sanna, Rita Cabrita, Sonia Leonardelli, Ishani Banik
Published in: Pigment Cell & Melanoma Research, Issue 32/1, 2018, Page(s) 92-172, ISSN 1755-1471
DOI: 10.1111/pcmr.12738