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5. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., and Kanetsky, Peter A.

Published
2017
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15. Bacteriophage-derived dsRNA exerts anti-SARS-CoV-2 activity in vitro and in Golden Syrian hamsters in vivo

Author

Vaivode Kristine, Verhovcova Irina, Skrastina Dace, Petrovska Ramona, Kreismane Madara, Lapse Daira, Rubene Diana, Kalnina Zane, and Pjanova Dace

Abstract

PurposeBacteriophage-derived dsRNA, also known as Larifan, is nationally well-known broad-spectrum antiviral medication. The goal of this study was to ascertain the antiviral activity of Larifan against the novel SARS-CoV-2.MethodsThe antiviral activity of Larifan against SARS-CoV-2 in vitro was measured in human lung adenocarcinoma (Calu3) and primary human small airway epithelial cells (HSAEC) using cytopathic effect assay, viral RNA copy number detection by digital droplet PCR (ddPCR) and infectious virus titration in cells supernatants in Vero E6 cells by end-point titration method. The antiviral effect of Larifan in vivo was detected in SARS-CoV-2 infection model in Golden Syrian hamsters. Larifan (5 mg/kg) was administered either subcutaneously or intranasally twice before and after virus infection with a 24-hour interval between doses. The viral RNA copies and infectious virus titre were detected in animal lungs at day three and five post-infection using ddPCR and end-point titration in Vero E6 cells, respectively. Histopathology of lungs was analysed as well.ResultsLarifan inhibited SARS-CoV-2 replication in Calu3 cells both after the drug addition pre- and post-infection with a substantial drop in the supernatant viral RNA copy numbers from eight (p = 0.0013) to twenty (p = 0.0042) times, respectively. Similarly, infectious virus titre in Vero E6 cells dropped by 3.6log10 TCID50 and 2.8log10 TCID50 after the drug addition pre- and post-infection, respectively. In HSAEC, Larifan inhibited SARS-CoV-2 replication at the similar level. Larifan also markedly reduced virus numbers in the lungs of infected hamsters (p = 0.0032) both at day three and five post-infection with a more pronounced effect after intranasal administration reaching a drop by 2.7log10 at day three and 2.0log10 at day five. The administration of Larifan also reduced the amount of infections virus titer in lungs (p = 0.0039) by 4.3log10 TCID50 and 2.8log10 TCID50 at day three and five post-infection, respectively. Improvements in the infection-induced pathological lesion severity in the lungs of animals treated with Larifan were also demonstrated by histological analyses.ConclusionsThe inhibition of SARS-CoV-2 replication in vitro and the reduction of the viral load in the lungs of infected hamsters treated with Larifan alongside the improved lung histopathology, suggests a potential use of Larifan in controlling the COVID-19 disease in humans.

Published
2022

16. Melanoma risk factors, perceived threat and intentional tanning : an international online survey

Author

Bränström, Richard, Chang, Yu-Mei, Kasparian, Nadine, Affleck, Paul, Tibben, Aad, Aspinwall, Lisa G., Azizi, Esther, Baron-Epel, Orna, Battistuzzi, Linda, Bruno, William, Chan, May, Cuellar, Francisco, Dębniak, Tadeusz, Pjanova, Dace, Ertmański, Sławomir, Figl, Adina, Gonzalez, Melinda, Hayward, Nicholas K., Hocevar, Marko, Kanetsky, Peter A., Leaf, Samantha L., van Nieuwpoort, Frans A., Heisele, Olita, Palmer, Jane, Peric, Barbara, Puig, Susana, Ruffin, Althea D., Schadendorf, Dirk, Gruis, Nelleke A., Brandberg, Yvonne, and Newton-Bishop, Julia

Published
2010

19. Additional file 1 of Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Scarlet H. Doyle, Azizi, Esther, Balestrini, Claudia, D. Timothy Bishop, Bruno, William, Carlos-Ortega, Blanca, Cuellar, Francisco, Cust, Anne E., E., David, Gerdes, Anne-Marie, Ghiorzo, Paola, Thais C. Grazziotin, Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-Luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-Alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-Bishop, Julia A., and Kanetsky, Peter A.

Subjects
neoplasms
Abstract

Additional file 1 : Module 1. Residency calendar, demographics, phenotype, and history of melanoma.

Published
2021
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20. Additional file 2 of Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Scarlet H. Doyle, Azizi, Esther, Balestrini, Claudia, D. Timothy Bishop, Bruno, William, Carlos-Ortega, Blanca, Cuellar, Francisco, Cust, Anne E., E., David, Gerdes, Anne-Marie, Ghiorzo, Paola, Thais C. Grazziotin, Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-Luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-Alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-Bishop, Julia A., and Kanetsky, Peter A.

Abstract

Additional file 2 : Module 2. Personal sun exposure

Published
2021
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21. Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Doyle, Scarlet H., Azizi, Esther, Balestrini, Claudia, Bishop, D. Timothy, Bruno, William, Carlos-ortega, Blanca, Cuellar, Francisco, Cust, Anne E., Elder, David E., Gerdes, Anne-marie, Ghiorzo, Paola, Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-bishop, Julia A., Kanetsky, Peter A., Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Doyle, Scarlet H., Azizi, Esther, Balestrini, Claudia, Bishop, D. Timothy, Bruno, William, Carlos-ortega, Blanca, Cuellar, Francisco, Cust, Anne E., Elder, David E., Gerdes, Anne-marie, Ghiorzo, Paola, Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-bishop, Julia A., and Kanetsky, Peter A.

Published
2021

22. Inherited variation in the PARP1 gene and survival from melanoma

Author

Davies, John R., Jewell, Rosalyn, Affleck, Paul, Anic, Gabriella M., Randerson-Moor, Juliette, Ozola, Aija, Egan, Kathleen M., Elliott, Faye, García-Casado, Zaida, Hansson, Johan, Harland, Mark, Höiom, Veronica, Jian, Guan, Jönsson, Göran, Kumar, Rajiv, Nagore, Eduardo, Wendt, Judith, Olsson, Håkan, Park, Jong Y., Patel, Poulam, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Sivaramakrishna Rachakonda, P., Snowden, Helen, Stratigos, Alexander J., Bafaloukos, Dimitrios, Ogbah, Zighereda, Sucker, Antje, Van den Oord, Joost J., Van Doorn, Remco, Walker, Christy, Okamoto, Ichiro, Wolter, Pascal, Barrett, Jennifer H., Timothy Bishop, D., and Newton-Bishop, Julia

Published
2014
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23. An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

Author

Davies, John R., Field, Sinead, Randerson-Moor, Juliette, Harland, Mark, Kumar, Rajiv, Anic, Gabriella M., Nagore, Eduardo, Hansson, Johan, Höiom, Veronica, Jönsson, Göran, Gruis, Nelleke A., Park, Jong Y., Guan, Jian, Rachakonda, P. Sivaramakrishna, Wendt, Judith, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Okamoto, Ichiro, Olsson, Håkan, Affleck, Paul, García-Casado, Zaida, Puig-Butille, Joan Anton, Stratigos, Alexander J., Kodela, Elizabeth, Donina, Simona, Sucker, Antje, Hosen, Ismail, Egan, Kathleen M., Barrett, Jennifer H., van Doorn, Remco, Bishop, Timothy D., and Newton-Bishop, Julia

Published
2014
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26. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

Author

Puntervoll, Hanne Eknes, Yang, Xiaohong R, Vetti, Hildegunn Høberg, Bachmann, Ingeborg M, Avril, Marie Françoise, Benfodda, Meriem, Catricalà, Caterina, Dalle, Stéphane, Duval-Modeste, Anne B, Ghiorzo, Paola, Grammatico, Paola, Harland, Mark, Hayward, Nicholas K, Hu, Hui-Han, Jouary, Thomas, Martin-Denavit, Tanguy, Ozola, Aija, Palmer, Jane M, Pastorino, Lorenza, Pjanova, Dace, Soufir, Nadem, Steine, Solrun J, Stratigos, Alexander J, Thomas, Luc, Tinat, Julie, Tsao, Hensin, Veinalde, Rūta, Tucker, Margaret A, Bressac-de Paillerets, Brigitte, Newton-Bishop, Julia A, Goldstein, Alisa M, Akslen, Lars A, and Molven, Anders

Published
2013
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27. Skin Examination Behavior: The Role of Melanoma History, Skin Type, Psychosocial Factors, and Region of Residence in Determining Clinical and Self-conducted Skin Examination

Author

Kasparian, Nadine A., Bränström, Richard, Chang, Yu-mei, Affleck, Paul, Aspinwall, Lisa G., Tibben, Aad, Azizi, Esther, Baron-Epel, Orna, Battistuzzi, Linda, Bruno, William, Chan, May, Cuellar, Francisco, Debniak, Tadeusz, Pjanova, Dace, Ertmanski, Slawomir, Figl, Adina, Gonzalez, Melinda, Hayward, Nicholas K., Hocevar, Marko, Kanetsky, Peter A., Leachman, Sancy, Bergman, Wilma, Heisele, Olita, Palmer, Jane, Peric, Barbara, Puig, Susana, Schadendorf, Dirk, Gruis, Nelleke A., Newton-Bishop, Julia, and Brandberg, Yvonne

Published
2012
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28. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

Author

Davies, John R., Randerson-Moor, Juliette, Kukalizch, Kairen, Harland, Mark, Kumar, Rajiv, Madhusudan, Srinivasan, Nagore, Eduardo, Hansson, Johan, Höiom, Veronica, Ghiorzo, Paola, Gruis, Nelleke A., Kanetsky, Peter A., Wendt, Judith, Pjanova, Dace, Puig, Susana, Saiag, Philippe, Schadendorf, Dirk, Soufir, Nadem, Okamoto, Ichiro, Affleck, Paul, García-Casado, Zaida, Ogbah, Zighereda, Ozola, Aija, Queirolo, Paola, Sucker, Antje, Barrett, Jennifer H., van Doorn, Remco, Bishop, Timothy D., and Newton-Bishop, Julia

Published
2012
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29. Association of HERV-K and LINE-1 hypomethylation with reduced disease-free survival in melanoma patients

Author

Cardelli, Maurizio, primary, Doorn, Remco van, additional, Larcher, Lares, additional, Donato, Michela Di, additional, Piacenza, Francesco, additional, Pierpaoli, Elisa, additional, Giacconi, Robertina, additional, Malavolta, Marco, additional, Rachakonda, Sivaramakrishna, additional, Gruis, Nelleke A, additional, Molven, Anders, additional, Andresen, Per Arne, additional, Pjanova, Dace, additional, van den Oord, Joost J, additional, Provinciali, Mauro, additional, Nagore, Eduardo, additional, and Kumar, Rajiv, additional

Published
2020
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32. The Role of the Meiotic Component in Reproduction of B-RAF-Mutated Melanoma : A Review and “Brainstorming” Session

Author

Pjanova, Dace, Vainshelbaum, Ninel M., Salmina, Kristine, and Erenpreisa, Jekaterina

Subjects
Medical
Abstract

The ectopic expression of cancer testis (CT) antigens and classic meiotic genes is characteristic and a hallmark of poor prognosis of melanoma disease. Here the potential mechanisms of meiotic influence on the cell and life cycle of malignant melanoma are reviewed in the genetic, epigenetic, and evolutionary aspects. The involved mutant B-RAF and N-RAS-induced senescence may be reversed by reprogramming, with stemness linked to meiotic landscape, possibly induced by DNA double-strand breaks at the mutual telomere hot spots. The induced by senescence mitotic slippage (reset of interphase from arrested metaphase) and resulting polyploidy trigger the meiotic ploidy cycle to function for effective DNA recombination repair, genome reduction, and escape of survivors, which enter the mitotic cycle again. The aberrant meiotic pathway in cancer is reviewed in the ancestral asexual variants; inverted meiosis is possible. The conundrum of cancer aneuploidy paradox, selection of fit clones, and the Muller’s Ratchet of inevitable accumulation of harmful mutations is discussed. The bioinformatic study of the densely connected protein interaction network of CT antigen expressed genes revealed the melanomagenesis attractor composed of PRAME and small MAGEA group in primary tumors as compared with B-RAF-mutant nevi, restructured stemness network; invasive melanoma further displays the leading role of SPANX CT antigen group; meiotic genes are expressed in all three tissue cohorts.

Published
2019

33. Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Author

Taylor, Nicholas J., Mitra, Nandita, Qian, Lu, Avril, Marie Françoise, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne Marie, Ghiorzo, P., Goldstein, Alisa M., Grazziotin, Thais C., Gruis, Nelleke A., Hansson, J., Harland, Mark, Hayward, Nicholas K., Hocevar, M., Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia L., Puig, Susana, Schmid, H., van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A.W., Yang, Xiaohong R., Newton-Bishop, Julia A., Kanetsky, Peter A., Taylor, Nicholas J., Mitra, Nandita, Qian, Lu, Avril, Marie Françoise, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne Marie, Ghiorzo, P., Goldstein, Alisa M., Grazziotin, Thais C., Gruis, Nelleke A., Hansson, J., Harland, Mark, Hayward, Nicholas K., Hocevar, M., Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia L., Puig, Susana, Schmid, H., van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A.W., Yang, Xiaohong R., Newton-Bishop, Julia A., and Kanetsky, Peter A.

Abstract

Background: Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance improvements can be achieved. Methods: In total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics. Results: MELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance. Conclusion: The MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.

Published
2019

36. Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Author

Taylor, Nicholas J., primary, Mitra, Nandita, additional, Qian, Lu, additional, Avril, Marie-Françoise, additional, Bishop, D. Timothy, additional, Bressac-de Paillerets, Brigitte, additional, Bruno, William, additional, Calista, Donato, additional, Cuellar, Francisco, additional, Cust, Anne E., additional, Demenais, Florence, additional, Elder, David E., additional, Gerdes, Anne-Marie, additional, Ghiorzo, Paola, additional, Goldstein, Alisa M., additional, Grazziotin, Thais C., additional, Gruis, Nelleke A., additional, Hansson, Johan, additional, Harland, Mark, additional, Hayward, Nicholas K., additional, Hocevar, Marko, additional, Höiom, Veronica, additional, Holland, Elizabeth A., additional, Ingvar, Christian, additional, Landi, Maria Teresa, additional, Landman, Gilles, additional, Larre-Borges, Alejandra, additional, Mann, Graham J., additional, Nagore, Eduardo, additional, Olsson, Håkan, additional, Palmer, Jane M., additional, Perić, Barbara, additional, Pjanova, Dace, additional, Pritchard, Antonia L., additional, Puig, Susana, additional, Schmid, Helen, additional, van der Stoep, Nienke, additional, Tucker, Margaret A., additional, Wadt, Karin A.W., additional, Yang, Xiaohong R., additional, Newton-Bishop, Julia A., additional, and Kanetsky, Peter A., additional

Published
2019
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39. Effect of Bacteriophage-Derived Double Stranded RNA on Rat Peritoneal Macrophages and Microglia in Normoxia and Hypoxia

Author

Pjanova, Dace, Hurmach, Yevheniia, Rudyk, Mariia, Khranovska, Natalia, Skachkova, Oksana, Verhovcova, Irina, and Skivka, Larysa

Abstract

The involvement of tissue-resident macrophages (TRMs) in health and diseases makes them unique therapeutic targets. TRMs are activated through their surface pattern recognition receptors, such as Toll-like receptors (TLRs) that are essential sensors of danger signals. Here, we determine the activation status of rat peritoneal macrophages (PMs) and microglia (MG) cells under normal and hypoxic conditions and investigate the effect of TLR3 agonist bacteriophage-derived dsRNA (Larifan) on the metabolic profile of TRMs in vitro. We implemented the phenotypic markers CD14 and CD206, arginine metabolism, phagocytic activity and reactive oxygen species generation as metabolic characteristics to evaluate TRMs activation. We showed that normoxic TRMs from different tissue niches responded to Larifan exposure in different ways. PM exhibited signs towards M1 polarisation. In contrast, the MG activation pattern could be considered as neither pro-inflammatory nor anti-inflammatory. We also showed that TRMs, regardless of the tissue niche, responded to hypoxia with a phenotypic shift towards an anti-inflammatory (M2) state. Larifan could attenuate hypoxia-induced TRMs metabolic programming. However, hypoxic conditions could negatively affect the interaction of TRMs with danger signals.

Published
2021
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41. Oncolytic viruses sensitize human tumor cells for NY-ESO-1 tumor antigen recognition by CD4+ effector T cells.

Author

Delaunay, Tiphaine, primary, Violland, Mathilde, additional, Boisgerault, Nicolas, additional, Dutoit, Soizic, additional, Vignard, Virginie, additional, Münz, Christian, additional, Gannage, Monique, additional, Dréno, Brigitte, additional, Vaivode, Kristine, additional, Pjanova, Dace, additional, Labarrière, Nathalie, additional, Wang, Yaohe, additional, Chiocca, E. Antonio, additional, Boeuf, Fabrice Le, additional, Bell, John C., additional, Erbs, Philippe, additional, Tangy, Frédéric, additional, Grégoire, Marc, additional, and Fonteneau, Jean-François, additional

Published
2017
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42. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J, Mitra, Nandita, Goldstein, Alisa M, Tucker, Margaret A, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C, Hansson, Johan, Harland, Mark, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M, Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, Kanetsky, Peter A, Taylor, Nicholas J, Mitra, Nandita, Goldstein, Alisa M, Tucker, Margaret A, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C, Hansson, Johan, Harland, Mark, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M, Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, and Kanetsky, Peter A

Abstract

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.

Published
2017

43. Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Author

Taylor, Nicholas J, Handorf, Elizabeth A, Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M, Grazziotin, Thais C, Hansson, Johan, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, Kanetsky, Peter A, Taylor, Nicholas J, Handorf, Elizabeth A, Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Cuellar, Francisco, Cust, Anne E, Demenais, Florence, Elder, David E, Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M, Grazziotin, Thais C, Hansson, Johan, Hayward, Nicholas K, Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A, Mann, Graham J, Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A, Wadt, Karin A W, Whitaker, Linda, Yang, Xiaohong R, Newton Bishop, Julia A, Gruis, Nelleke A, and Kanetsky, Peter A

Published
2016

44. An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

Author

Davies, John R. Field, Sinead Randerson-Moor, Juliette and Harland, Mark Kumar, Rajiv Anic, Gabriella M. Nagore, Eduardo Hansson, Johan Hoeiom, Veronica Joensson, Goeran and Gruis, Nelleke A. Park, Jong Y. Guan, Jian Rachakonda, P. Sivaramakrishna Wendt, Judith Pjanova, Dace Puig, Susana and Schadendorf, Dirk Okamoto, Ichiro Olsson, Hakan Affleck, Paul Garcia-Casado, Zaida Anton Puig-Butille, Joan and Stratigos, Alexander J. Kodela, Elizabeth Donina, Simona and Sucker, Antje Hosen, Ismail Egan, Kathleen M. Barrett, Jennifer H. van Doorn, Remco Bishop, D. Timothy and Newton-Bishop, Julia

Abstract

An association between low serum vitamin D levels and poorer melanoma survival has been reported. We have studied inheritance of a polymorphism of the GC gene, rs2282679, coding for the vitamin D-binding protein, which is associated with lower serum levels of vitamin D, in a meta-analysis of 3137 melanoma patients. The aim was to investigate evidence for a causal relationship between vitamin D and outcome (Mendelian randomization). The variant was not associated with reduced overall survival (OS) in the UK cohort, per-allele hazard ratio (HR) for death 1.23 (95% confidence interval (CI) 0.93, 1.64). In the smaller cohorts, HR in OS analysis was 1.07 (95% CI 0.88, 1.3) and for all cohorts combined, HR for OS was 1.09 (95% CI 0.93, 1.29). There was evidence of increased melanoma-specific deaths in the seven cohorts for which these data were available. The lack of unequivocal findings despite the large sample size illustrates the difficulties of implementing Mendelian randomization.

Published
2014

45. Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Author

Taylor, Nicholas J., primary, Handorf, Elizabeth A., additional, Mitra, Nandita, additional, Avril, Marie-Françoise, additional, Azizi, Esther, additional, Bergman, Wilma, additional, Bianchi-Scarrà, Giovanna, additional, Bishop, D. Timothy, additional, Bressac-de Paillerets, Brigitte, additional, Calista, Donato, additional, Cannon-Albright, Lisa A., additional, Cuellar, Francisco, additional, Cust, Anne E., additional, Demenais, Florence, additional, Elder, David E., additional, Friedman, Eitan, additional, Gerdes, Anne-Marie, additional, Ghiorzo, Paola, additional, Goldstein, Alisa M., additional, Grazziotin, Thais C., additional, Hansson, Johan, additional, Hayward, Nicholas K., additional, Hocevar, Marko, additional, Höiom, Veronica, additional, Holland, Elizabeth A., additional, Ingvar, Christian, additional, Landi, Maria Teresa, additional, Landman, Gilles, additional, Larre-Borges, Alejandra, additional, Leachman, Sancy A., additional, Mann, Graham J., additional, Nagore, Eduardo, additional, Olsson, Håkan, additional, Palmer, Jane, additional, Perić, Barbara, additional, Pjanova, Dace, additional, Puig, Susana, additional, Schmid, Helen, additional, van der Stoep, Nienke, additional, Tucker, Margaret A., additional, Wadt, Karin A.W., additional, Whitaker, Linda, additional, Yang, Xiaohong R., additional, Newton Bishop, Julia A., additional, Gruis, Nelleke A., additional, and Kanetsky, Peter A., additional

Published
2016
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46. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

Author

Puntervoll, Hanne Eknes Yang, Xiaohong R. Vetti, Hildegunn Hoberg Bachmann, Ingeborg M. Avril, Marie Francoise and Benfodda, Meriem Catricala, Caterina Dalle, Stephane and Duval-Modeste, Anne B. Ghiorzo, Paola Grammatico, Paola and Harland, Mark Hayward, Nicholas K. Hu, Hui-Han Jouary, Thomas Martin-Denavit, Tanguy Ozola, Aija Palmer, Jane M. and Pastorino, Lorenza Pjanova, Dace Soufir, Nadem Steine, Solrun J. Stratigos, Alexander J. Thomas, Luc Tinat, Julie and Tsao, Hensin Veinalde, Ruta Tucker, Margaret A. and Bressac-de Paillerets, Brigitte Newton-Bishop, Julia A. and Goldstein, Alisa M. Akslen, Lars A. Molven, Anders

Subjects
integumentary system, neoplasms
Abstract

Background CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. Melanoma families with CDKN2A germline mutations have been extensively characterised, whereas CDK4 families are rare and lack a systematic investigation of their phenotype. Methods All known families with CDK4 germline mutations (n=17) were recruited for the study by contacting the authors of published papers or by requests via the Melanoma Genetics Consortium (GenoMEL). Phenotypic data related to primary melanoma and pigmentation characteristics were collected. The CDK4 exon 2 and the complete coding region of the MC1R gene were sequenced. Results Eleven families carried the CDK4 R24H mutation whereas six families had the R24C mutation. The total number of subjects with verified melanoma was 103, with a median age at first melanoma diagnosis of 39 years. Forty-three (41.7%) subjects had developed multiple primary melanomas (MPM). A CDK4 mutation was found in 89 (including 62 melanoma cases) of 209 tested subjects. CDK4 positive family members (both melanoma cases and unaffected subjects) were more likely to have clinically atypical nevi than CDK4 negative family members (p

Published
2013

47. Oncolytic viruses sensitize human tumor cells for NY-ESO-1 tumor antigen recognition by CD4+ effector T cells.

Author

Delaunay, Tiphaine, Violland, Mathilde, Boisgerault, Nicolas, Dutoit, Soizic, Vignard, Virginie, Mănz, Christian, Gannage, Monique, Dréno, Brigitte, Vaivode, Kristine, Pjanova, Dace, Labarriére, Nathalie, Wang, Yaohe, Antonio Chiocca, E., Boeuf, Fabrice Le, Bell, John C., Erbs, Philippe, Tangy, Frédéric, Grégoire, Marc, and Fonteneau, Jean-Francois

Subjects
TUMOR antigens, IMMUNE recognition, CANCER immunotherapy
Abstract

Oncolytic immunotherapy using oncolytic viruses (OV) has been shown to stimulate the antitumor immune response by inducing the release of tumor-associated antigens (TAA) and danger signals from the dying infected tumor cells. In this study, we sought to determine if the lysis of tumor cells induced by different OV: measles virus, vaccinia virus, vesicular stomatitis virus, herpes simplex type I virus, adenovirus or enterovirus, has consequences on the capacity of tumor cells to present TAA, such as NY-ESO-1. We show that the co-culture of NY-ESO-1neg/HLA-DP4pos melanoma cells with NY-ESO-1pos/HLA-DP4neg melanoma cells infected and killed by different OV induces an intercellular transfer of NY-ESO-1 that allows the recognition of NY-ESO- 1neg/HLA-DP4pos tumor cells by an HLA-DP4/NY-ESO-1(157-170)-specific CD4C cytotoxic T cell clone, NY67. We then confirmed this result in a second model with an HLA-DP4+ melanoma cell line that expresses a low amount of NY-ESO-1. Recognition of this cell line by the NY67 clone is largely increased in the presence of OV productive infection. Altogether, our results show for the first time another mechanism of stimulation of the anti-tumor immune response by OV, via the loading of tumor cells with TAA that sensitizes them for direct recognition by specific effector CD4+ T cells, supporting the use of OV for cancer immunotherapy. [ABSTRACT FROM AUTHOR]

Published
2018
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49. Replacement of short segments within transmembrane domains of MC2R disrupts retention signal

Author

Fridmanis, Davids, Petrovska, Ramona, Pjanova, Dace, Schiöth, Helgi B., Klovins, Janis, Fridmanis, Davids, Petrovska, Ramona, Pjanova, Dace, Schiöth, Helgi B., and Klovins, Janis

Abstract

The proteolysis of the pro-opiomelanocortin precursor results in the formation of melanocortins (MCs), a group of peptides that share the conserved -H-F-R-W- sequence, which acts as a pharmacophore for five subtypes of MC receptors (MCRs). MC type 2 receptor (MC2R; also known as ACTHR) is the most specialized of all the MCRs. It is predominantly expressed in the adrenal cortex and specifically binds ACTH. Unlike other MCRs, it requires melanocortin receptor accessory protein 1 (MRAP) for formation of active receptor and for its transport to the cell membrane. The molecular mechanisms underlying this specificity remain poorly understood. In this study, we used directed mutagenesis to investigate the role of various short MC2R sequence segments in receptor membrane trafficking and specific activation upon stimulation with ligands. The strategy of the study was to replace two to five amino acid residues within one MC2R segment with the corresponding residues of MC4R. In total, 20 recombinant receptors C-terminally fused to enhanced green fluorescent protein were generated and their membrane trafficking efficiencies and cAMP response upon stimulation with α-MSH and ACTH(1-24) were estimated during their stand-alone expression and coexpression with MRAP. Our results indicate that both the motif that determines the ligand-recognition specificity and the intracellular retention signal are formed by a specific extracellular structure, which is supported by the correct alignment of the transmembrane domains. Our results also indicate that the aromatic-residue-rich segment of the second extracellular loop is involved in the effects mediated by the second ACTH pharmacophore (-K-K-R-R-).

Published
2014
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50. Inherited variation in the PARP1 gene and survival from melanoma

Author

Davies, John R, Jewell, Rosalyn, Affleck, Paul, Anic, Gabriella M, Randerson-Moor, Juliette, Ozola, Aija, Egan, Kathleen M, Elliott, Faye, García-Casado, Zaida, Hansson, Johan, Harland, Mark, Höiom, Veronica, Jian, Guan, Jönsson, Göran, Kumar, Rajiv, Nagore, Eduardo, Wendt, Judith, Olsson, Håkan, Park, Jong Y, Patel, Poulam, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Sivaramakrishna Rachakonda, P, Snowden, Helen, Stratigos, Alexander J, Bafaloukos, Dimitrios, Ogbah, Zighereda, Sucker, Antje, Van den Oord, Joost J, Van Doorn, Remco, Walker, Christy, Okamoto, Ichiro, Wolter, Pascal, Barrett, Jennifer H, Timothy Bishop, D, Newton-Bishop, Julia, Davies, John R, Jewell, Rosalyn, Affleck, Paul, Anic, Gabriella M, Randerson-Moor, Juliette, Ozola, Aija, Egan, Kathleen M, Elliott, Faye, García-Casado, Zaida, Hansson, Johan, Harland, Mark, Höiom, Veronica, Jian, Guan, Jönsson, Göran, Kumar, Rajiv, Nagore, Eduardo, Wendt, Judith, Olsson, Håkan, Park, Jong Y, Patel, Poulam, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Sivaramakrishna Rachakonda, P, Snowden, Helen, Stratigos, Alexander J, Bafaloukos, Dimitrios, Ogbah, Zighereda, Sucker, Antje, Van den Oord, Joost J, Van Doorn, Remco, Walker, Christy, Okamoto, Ichiro, Wolter, Pascal, Barrett, Jennifer H, Timothy Bishop, D, and Newton-Bishop, Julia

Abstract

We report the association of an inherited variant located upstream of the poly(adenosine diphosphate-ribose) polymerase 1 (PARP1) gene (rs2249844), with survival in 11 BioGenoMEL melanoma cohorts. The gene encodes a protein involved in a number of cellular processes including single-strand DNA repair. Survival analysis was conducted for each cohort using proportional hazards regression adjusting for factors known to be associated with survival. Survival was measured as overall survival (OS) and, where available, melanoma-specific survival (MSS). Results were combined using random effects meta-analysis. Evidence for a role of the PARP1 protein in melanoma ulceration and survival was investigated by testing gene expression levels taken from formalin-fixed paraffin-embedded tumors. A significant association was seen for inheritance of the rarer variant of PARP1, rs2249844 with OS (hazard ratio (HR) = 1.16 per allele, 95% confidence interval (CI) 1.04-1.28, p=0.005, eleven cohorts) and MSS (HR=1.20 per allele, 95% CI 1.01-1.39, p=0.03, eight cohorts). We report bioinformatic data supportive of a functional effect for rs2249844. Higher levels of PARP1 gene expression in tumors were shown to be associated with tumor ulceration and poorer OS. What's new? Although staging systems predict outcome fairly well for melanoma, survival still varies among individual patients. In this meta-analysis, the authors found that inheritance of a rare genetic variant of PARP1 was associated with improved survival of melanoma patients. Increased expression of PARP1 has been associated with poorer outcome, and depletion of PARP1 may reduce both melanoma growth and angiogenesis. The identification of this and other germline variants that affect survival may help to identify key biological pathways active in host/tumor interactions, which may lead to the discovery of new therapeutic targets for treating advanced melanoma. Epidemiology

Published
2014

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