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1. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.

Published
2020
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5. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, and Iles, Mark M

Published
2015
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7. The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length

Author

Iles, Mark M., Bishop, D. Timothy, Taylor, John C., Hayward, Nicholas K., Brossard, Myriam, Cust, Anne E., Dunning, Alison M., Lee, Jeffrey E., Moses, Eric K., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Martin, Nicholas G., Molven, Anders, Montgomery, Grant W., Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., Randerson-Moor, Juliette, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C., MacGregor, Stuart, Pooley, Karen A., Ward, Sarah V., Mann, Graham J., Amos, Christopher I., Pharoah, Paul D. P., Demenais, Florence, Law, Matthew H., Newton Bishop, Julia A., and Barrett, Jennifer H.

Published
2014
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8. MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer

Author

Stormorken Astrid, Heintz Karen-Marie, Andresen Per, Hovig Eivind, and Møller Pål

Subjects
familial adenomatous polyposis coli, hereditary non-polyposis colorectal cancer, late onset familial colorectal cancer, MUTYH mutations, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Abstract

Abstract Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswered concerning MUTYH. We have addressed the following: Do biallelic MUTYH mutation carriers invariably demonstrate FAP, and may MUTYH be a gene causing HNPCC, HNPCC-like or dominantly inherited late onset colorectal cancer? We examined affecteds from our total series of HNPCC, HNPCC-like and dominantly inherited late onset colorectal cancer kindreds not demonstrated to have any MMR mutations. Bloodsamples from 96 patients were subjected to sequencing of exon 7 and exon 13 in the MUTYH gene. Two heterozygotes and one homozygote for the European founder mutations were found. The homozygous carrier did not meet criteria for FAP/AFAP. We conclude that MUTYH, when mutated, causes a rare recessively inherited disorder including colorectal- and duodenal cancers. It is not verified that heterozygous carriers of MUTYH mutations have an increased risk of cancer, and they do not explain the occurrence of familial colorectal cancer in the population.

Published
2006
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9. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Author

Barrett, Jennifer H., Taylor, John C., Bright, Chloe, Harland, Mark, Dunning, Alison M., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Bianchi Scarrà, Giovanna, Brossard, Myriam, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Lang, Julie, Lathrop, Mark G., Lubiński, Jan, Mackie, Rona M., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, van der Stoep, Nienke, van Doorn, Remco, van Workum, Wilbert, Goldstein, Alisa M., Kanetsky, Peter A., Pharoah, Paul D. P., Demenais, Florence, Hayward, Nicholas K., Newton Bishop, Julia A., Bishop, Timothy D., and Iles, Mark M.

Published
2015
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11. 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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16. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Bressac-de Paillerets, Brigitte, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, Player, Jon, Tse, Chiu-Kit, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Setlow, Richard, Mohrenweiser, Harvey, Autier, Philippe, Han, Jiali, Caini, Saverio, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Bishop, Tim, Elliott, Faye, Lazovich, Deann, Polsky, David, Hansson, Johan, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Blizzard, Leigh, Cochrane, Jennifer, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Stefania, Wong, Collaborators (98): Alaibac M, Terence H., Ferrari, A, Valeri, B, Et, Al., Pellegrini, C., Botta, F., Massi, D., Martorelli, C., Facchetti, F., Gandini, S., Maisonneuve, P., Avril, M. -F., Demenais, F., Bressac-de Paillerets, B., Hoiom, V., Cust, A. E., Anton-Culver, H., Gruber, S. B., Gallagher, R. P., Marrett, L., Zanetti, R., Dwyer, T., Thomas, N. E., Begg, C. B., Berwick, M., Puig, S., Potrony, M., Nagore, E., Ghiorzo, P., Menin, C., Manganoni, A. M., Rodolfo, M., Brugnara, S., Passoni, E., Sekulovic, L. K., Baldini, F., Guida, G., Stratigos, A., Ozdemir, F., Ayala, F., Fernandez-de-Misa, R., Quaglino, P., Ribas, G., Romanini, A., Migliano, E., Stanganelli, I., Kanetsky, P. A., Pizzichetta, M. A., Garcia-Borron, J. C., Nan, H., Landi, M. T., Little, J., Newton-Bishop, J., Sera, F., Fargnoli, M. C., Raimondi, S., Alaibac, M., Ferrari, A., Valeri, B., Sicher, M., Mangiola, D., Nazzaro, G., Tosti, G., Mazzarol, G., Giudice, G., Ribero, S., Astrua, C., Mazzoni, L., Orlow, I., Mujumdar, U., Hummer, A., Busam, K., Roy, P., Canchola, R., Clas, B., Cotignola, J., Monroe, Y., Armstrong, B., Kricker, A., Litchfield, M., Tucker, P., Stephens, N., Switzer, T., Theis, B., From, L., Chowdhury, N., Vanasse, L., Purdue, M., Northrup, D., Rosso, S., Sacerdote, C., Leighton, N., Gildea, M., Bonner, J., Jeter, J., Klotz, J., Wilcox, H., Weiss, H., Millikan, R., Mattingly, D., Player, J., Tse, C. -K., Rebbeck, T., Walker, A., Panossian, S., Setlow, R., Mohrenweiser, H., Autier, P., Han, J., Caini, S., Hofman, A., Kayser, M., Liu, F., Nijsten, T., Uitterlinden, A. G., Kumar, R., Bishop, T., Elliott, F., Lazovich, D., Polsky, D., Hansson, J., Pastorino, L., Gruis, N. A., Bouwes Bavinck, J. N., Aguilera, P., Badenas, C., Carrera, C., Gimenez-Xavier, P., Malvehy, J., Puig-Butille, J. A., Tell-Marti, G., Blizzard, L., Cochrane, J., Branicki, W., Debniak, T., Morling, N., Johansen, P., Mayne, S., Bale, A., Cartmel, B., Ferrucci, L., Pfeiffer, R., Palmieri, G., Kypreou, K., Bowcock, A., Cornelius, L., Council, M. L., Motokawa, T., Anno, S., Helsing, P., Andresen, P. A., Guida, S., Wong, T. H., Ege Üniversitesi, Epidemiology, Genetic Identification, and Dermatology

Subjects
Male, Skin Neoplasms, Pediatrics, Cohort Studies, 0302 clinical medicine, Odds Ratio, Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health, 030212 general & internal medicine, Child, Cancer, Pediatric, Tumor, childhood disease, Middle Aged, Perinatology and Child Health, cohort analysis, Meta-analysis, Melanocortin, Cohort, Female, MC1R gene, Receptor, Melanocortin, Type 1, Receptor, Type 1, Cohort study, Adult, medicine.medical_specialty, adolescent, melanoma, cohort analysi, Subgroup analysis, Article, 03 medical and health sciences, Genetic, Clinical Research, 030225 pediatrics, Internal medicine, Genetics, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, Germ-Line Mutation, Aged, Retrospective Studies, Polymorphism, Genetic, business.industry, Prevention, Case-control study, Retrospective cohort study, GEM Study Group, Odds ratio, Logistic Models, M-SKIP Study Group, Case-Control Studies, Cutaneous melanoma, IMI Study Group, business, Biomarkers
Abstract

Ferrari, Andrea/0000-0002-4724-0517; Pellegrini, Cristina/0000-0003-2168-8097; Migliano, Emilia/0000-0002-5316-8937; Maisonneuve, Patrick/0000-0002-5309-4704; Guida, Stefania/0000-0002-8221-6694; Pastorino, Lorenza/0000-0002-2575-8331; CARRERA, CRISTINA/0000-0003-1608-8820; Paillerets, Brigitte Bressac-de/0000-0003-0245-8608; Sekulovic, Lidija Kandolf/0000-0002-5221-5068; Caini, Saverio/0000-0002-2262-1102; Potrony, Miriam/0000-0003-2766-0765; Pizzichetta, Maria Antonietta/0000-0002-4201-8490; Little, Julian/0000-0001-5026-5531; Nagore, Eduardo/0000-0003-3433-8707; Polsky, David/0000-0001-9554-5289; Demenais, Florence/0000-0001-8361-0936; Nazzaro, Gianluca/0000-0001-8534-6497; gandini, sara/0000-0002-1348-4548; Cornelius, Lynn A/0000-0002-6329-2819; Palmieri, Giuseppe/0000-0002-4350-2276; Cotignola, Javier/0000-0003-4473-9854; Ghiorzo, Paola/0000-0002-3651-8173; Autier, Philippe/0000-0003-1538-5321; Bishop, Tim/0000-0002-8752-8785; Sera, Francesco/0000-0002-8890-6848; Newton-Bishop, Julia/0000-0001-9147-6802; Litchfield, Melisa/0000-0003-0002-7724, WOS: 000464254100018, PubMed: 30872112, Background Germline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls. Methods in this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger. Findings We analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1.54, 95% CI 1.02-2.33), including when analysis was restricted to patients aged 18 years or younger (1.80, 1.06-3.07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1.60, 95% CI 1.05-2.44; p=0.04) and Asp294His (2.15, 1.05-4.40; p=0.04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants. Interpretation Our pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies. Copyright (c) 2019 Elsevier Ltd. All rights reserved., [AIRC-MFAG-11831]; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086] Funding Source: NIH RePORTER, SPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.

Published
2019

17. Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Lawrence, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Leenhardt, Jeffrey E., Brossard, Myriam, Moses, Eric K., Song, Fengju, Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Chen, Wei V., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Mann, Graham J., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., van Doorn, Remco, Whiteman, David C., Craig, Jamie E., Schadendorf, Dirk, Simms, Lisa A., Burdon, Kathryn P., Nyholt, Dale R., Pooley, Karen A., Orr, Nicholas, Stratigos, Alexander J., Cust, Anne E., Ward, Sarah V., Schulze, Hans-Joachim, Dunning, Alison M., Demenais, Florence, Amos, Christopher I., Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G.

Subjects
0301 basic medicine, Skin Neoplasms, Medizin, General Physics and Astronomy, 02 engineering and technology, Receptors, G-Protein-Coupled, Guanine Nucleotide Exchange Factors, skin and connective tissue diseases, lcsh:Science, Melanoma, Telomerase, Nevus, Pigmented, Stem Cell Factor, Multidisciplinary, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, Genetic Pleiotropy, 021001 nanoscience & nanotechnology, Publisher Correction, Spelling, Cytochrome P-450 CYP1B1, Interferon Regulatory Factors, 0210 nano-technology, Science, Telomere-Binding Proteins, Nerve Tissue Proteins, Computational biology, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Histone Deacetylases, White People, Group VI Phospholipases A2, 03 medical and health sciences, medicine, Nevus, Humans, Genetic Predisposition to Disease, General Chemistry, medicine.disease, Repressor Proteins, MicroRNAs, 030104 developmental biology, RNA, lcsh:Q, Carrier Proteins, Genome-Wide Association Study
Abstract

The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis., Melanocytic nevus count is associated with melanoma risk. In this study, a meta-analysis of 11 nevus GWAS studies identifies novel SNPs in KITLG and 9q32, and bivariate analysis with melanoma GWAS meta-analysis reveals that most nevus genes affect melanoma risk, while melanoma risk loci do not alter the nevus count.

Published
2019

18. Publisher Correction::Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (Nature Communications, (2018), 9, 1, (4774), 10.1038/s41467-018-06649-5)

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Lee, Jeffrey E., Brossard, Myriam, Moses, Eric K., Song, Fengju, Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D.P., Swerdlow, Anthony J., Kypreou, Katerina P., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, and Smith, George Davey

Abstract

The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram. In addition, the original version of this Article also contained errors in the author affiliations which are detailed in the associated Publisher Correction.

Published
2019

19. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Author

Duffy, David L. Zhu, Gu Li, Xin Sanna, Marianna Iles, Mark M. Jacobs, Leonie C. Evans, David M. Yazar, Seyhan and Beesley, Jonathan Law, Matthew H. Kraft, Peter Visconti, Alessia Taylor, John C. Liu, Fan Wright, Margaret J. and Henders, Anjali K. Bowdler, Lisa Glass, Dan Ikram, M. Arfan and Uitterlinden, Andre G. Madden, Pamela A. Heath, Andrew C. and Nelson, Elliot C. Green, Adele C. Chanock, Stephen and Barrett, Jennifer H. Brown, Matthew A. Hayward, Nicholas K. and MacGregor, Stuart Sturm, Richard A. Hewitt, Alex W. Kayser, Manfred Hunter, David J. Bishop, Julia A. Newton Spector, Timothy D. Montgomery, Grant W. Mackey, David A. Smith, George Davey Nijsten, Tamar E. Bishop, D. Timothy Bataille, Veronique Falchi, Mario Han, Jiali Martin, Nicholas G. and Lee, Jeffrey E. Brossard, Myriam Moses, Eric K. Song, Fengju and Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. and Swerdlow, Anthony J. Kypreou, Katerina P. Harland, Mark and Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. and Avril, Marie-Francoise Azizi, Esther Scarra, Giovanna Bianchi and Brown, Kevin M. Debniak, Tadeusz Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Novakovic, Srdjan Olsson, Hakan Puig, Susana and Puig-Butille, Joan Anton Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. and Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. and Nyholt, Dale R. Pooley, Karen A. Orr, Nicholas Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Schulze, Hans-Joachim Dunning, Alison M. Demenais, Florence Amos, Christopher I. Melanoma GWAS Consortium

Published
2019

27. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

Author

Pasquali, Elena, García Borrón, José C., Fargnoli, Maria Concetta, Gandini, Sara, Maisonneuve, Patrick, Bagnardi, Vincenzo, Specchia, Claudia, Liu, Fan, Kayser, Manfred, Nijsten, Tamar, Nagore, Eduardo, Kumar, Rajiv, Hansson, Johan, Kanetsky, Peter A., Ghiorzo, Paola, Debniak, Tadeusz, Branicki, Wojciech, Gruis, Nelleke A., Han, Jiali, Dwyer, Terry, Blizzard, Leigh, Landi, Maria Teresa, Palmieri, Giuseppe, Ribas, Gloria, Stratigos, Alexander, Council, M. Laurin, Autier, Philippe, Little, Julian, Newton Bishop, Julia, Sera, Francesco, Raimondi, Sara, Caini, Saverio, Hofman, Albert, Uitterlinden, Andre G., Scherer, Dominique, Hoiom, Veronica, Pastorino, Lorenza, Cochrane, Jennifer, Fernandez De Misa, Ricardo, Morling, Niels, Johansen, Peter, Pfeiffer, Ruth, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Wong, Terence H., International Prevention Research Institute (IPRI), Strathclyde Institute of Global Public Health at iPRI (SIGPH@iPRI), Pasquali, E, García Borrón, J, Fargnoli, M, Gandini, S, Maisonneuve, P, Bagnardi, V, Specchia, C, Liu, F, Kayser, M, Nijsten, T, Nagore, E, Kumar, R, Hansson, J, Kanetsky, P, Ghiorzo, P, Debniak, T, Branicki, W, Gruis, N, Han, J, Dwyer, T, Blizzard, L, Landi, M, Palmieri, G, Ribas, G, Stratigos, A, Council, M, Autier, P, Little, J, Newton Bishop, J, Sera, F, Raimondi, S, Caini, S, Hofman, A, Uitterlinden, A, Scherer, D, Hoiom, V, Pastorino, L, Cochrane, J, Fernandez De Misa, R, Morling, N, Johansen, P, Pfeiffer, R, Kypreou, K, Bowcock, A, Cornelius, L, Motokawa, T, Anno, S, Helsing, P, Andresen, P, Wong, T, Genetic Identification, and Dermatology

Subjects
Risk, Cancer Research, genetic epidemiology, Skin Neoplasms, European Continental Ancestry Group, Skin Pigmentation, Type 1/*genetics Risk Skin Neoplasms/etiology/*genetics Skin Pigmentation genetic epidemiology melanocortin-1 receptor melanoma meta-analysis, Article, White People, SDG 3 - Good Health and Well-being, Melanocortin-1 receptor, European Continental Ancestry Group *Genetic Predisposition to Disease Humans Melanoma/etiology/*genetics Middle Aged Phenotype Receptor, melanoma, Humans, Genetic epidemiology, Meta-analysi, Genetic Predisposition to Disease, Melanoma, melanocortin-1 receptor, Middle Aged, meta-analysis, Phenotype, Oncology, Melanocortin, Meta-analysis, Receptor, Melanocortin, Type 1, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Receptor, Type 1
Abstract

Pasquali, Elena Garcia-Borron, Jose C Fargnoli, Maria Concetta Gandini, Sara Maisonneuve, Patrick Bagnardi, Vincenzo Specchia, Claudia Liu, Fan Kayser, Manfred Nijsten, Tamar Nagore, Eduardo Kumar, Rajiv Hansson, Johan Kanetsky, Peter A Ghiorzo, Paola Debniak, Tadeusz Branicki, Wojciech Gruis, Nelleke A Han, Jiali Dwyer, Terry Blizzard, Leigh Landi, Maria Teresa Palmieri, Giuseppe Ribas, Gloria Stratigos, Alexander Council, M Laurin Autier, Philippe Little, Julian Newton-Bishop, Julia Sera, Francesco Raimondi, Sara eng 10589/Cancer Research UK/United Kingdom K05 CA131675/CA/NCI NIH HHS/ U01 CA083180/CA/NCI NIH HHS/ Research Support, Non-U.S. Gov't 2014/06/12 06:00 Int J Cancer. 2015 Feb 1;136(3):618-31. doi: 10.1002/ijc.29018. Epub 2014 Jun 18.; International audience; The MC1R gene is a key regulator of skin pigmentation. We aimed to evaluate the association between MC1R variants and the risk of sporadic cutaneous melanoma (CM) within the M-SKIP project, an international pooled-analysis on MC1R, skin cancer and phenotypic characteristics. Data included 5,160 cases and 12,119 controls from 17 studies. We calculated a summary odds ratio (SOR) for the association of each of the nine most studied MC1R variants and of variants combined with CM by using random-effects models. Stratified analysis by phenotypic characteristics were also performed. Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E. Carriers of any MC1R variant had a 66% higher risk of developing melanoma compared with wild-type subjects (SOR; 95%CI: 1.66; 1.41-1.96) and the risk attributable to MC1R variants was 28%. When taking into account phenotypic characteristics, we found that MC1R-associated melanoma risk increased only for darker-pigmented Caucasians: SOR (95%CI) was 3.14 (2.06-4.80) for subjects with no freckles, no red hair and skin Type III/IV. Our study documents the important role of all the main MC1R variants in sporadic CM and suggests that they have a direct effect on melanoma risk, independently on the phenotypic characteristics of carriers. This is of particular importance for assessing preventive strategies, which may be directed to darker-pigmented Caucasians with MC1R variants as well as to lightly pigmented, fair-skinned subjects.

Published
2015

28. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H. Bishop, D. Timothy Lee, Jeffrey E. Brossard, Myriam Martin, Nicholas G. Moses, Eric K. Song, Fengju and Barrett, Jennifer H. Kumar, Rajiv Easton, Douglas F. and Pharoah, Paul D. P. Swerdlow, Anthony J. Kypreou, Katerina P. and Taylor, John C. Harland, Mark Randerson-Moor, Juliette and Akslen, Lars A. Andresen, Per A. Avril, Marie-Franoise and Azizi, Esther Scarra, Giovanna Bianchi Brown, Kevin M. and Debniak, Tadeusz Duffy, David L. Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoeiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Montgomery, Grant W. Novakovic, Srdjan Olsson, Hakan and Puig, Susana Puig-Butille, Joan Anton Qureshi, Abrar A. and Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco and Whiteman, David C. Craig, Jamie E. Schadendorf, Dirk and Simms, Lisa A. Burdon, Kathryn P. Nyholt, Dale R. Pooley, Karen A. Orr, Nick Stratigos, Alexander J. Cust, Anne E. and Ward, Sarah V. Hayward, Nicholas K. Han, Jiali Schulze, Hans-Joachim Dunning, Alison M. Bishop, Julia A. Newton and Demenais, Florence Amos, Christopher I. MacGregor, Stuart and Iles, Mark M. GenoMEL Consortium Essen-Heidelberg Investigators and SDH Study Grp Q-MEGA QTWIN Investigators AMFS Investigators and ATHENS Melanoma Study Grp

Abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 x 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

Published
2015

29. Surface-Bounded Growth Modeling Applied to Human Mandibles

Author

Andresen, Per Ronsholt, Bookstein, Fred L., Conradsen, Knut, Ersboll, Bjarne Kjaer, Marsh, Jeffrey L., and Kreiborg, Sven

Subjects
Tomography -- Research, CT imaging -- Analysis, Mandible -- Anatomy, Principal components analysis -- Models, Business, Electronics, Electronics and electrical industries, Health care industry
Abstract

From a set of longitudinal three-dimensional scans of the same anatomical structure, we have accurately modeled the temporal shape and size changes using a linear shape model. On a total of 31 computed tomography scans of the mandible from six patients, 14851 semilandmarks are found automatically using shape features and a new algorithm called geometry-constrained diffusion. The semilandmarks are mapped into Procrustes space. Principal component analysis extracts a one-dimensional subspace, which is used to construct a linear growth model. The worst case mean modeling error in a cross validation study is 3.7 mm. Index Terms--Geometry-constrained diffusion, morphometrics, nonrigid shape-preserving registration, principal component analysis, Procrustes analysis, semilandmarks.

Published
2000

30. Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Author

Tagliabue, Elena, primary, Gandini, Sara, additional, García-Borrón, José C., additional, Maisonneuve, Patrick, additional, Newton-Bishop, Julia, additional, Polsky, David, additional, Lazovich, DeAnn, additional, Kumar, Rajiv, additional, Ghiorzo, Paola, additional, Ferrucci, Leah, additional, Gruis, Nelleke A., additional, Puig, Susana, additional, Kanetsky, Peter A., additional, Motokawa, Tomonori, additional, Ribas, Gloria, additional, Landi, Maria Teresa, additional, Fargnoli, Maria Concetta, additional, Wong, Terence H., additional, Stratigos, Alexander, additional, Helsing, Per, additional, Guida, Gabriella, additional, Autier, Philippe, additional, Han, Jiali, additional, Little, Julian, additional, Sera, Francesco, additional, Raimondi, Sara, additional, Fargnoli, Maria Concetta, additional, García-Borrón, José C., additional, Caini, Saverio, additional, Hofman, Albert, additional, Kayser, Manfred, additional, Liu, Fan, additional, Nijsten, Tamar, additional, Uitterlinden, Andre G., additional, Scherer, Dominique, additional, Bishop, Tim, additional, Elliott, Faye, additional, Nagore, Eduardo, additional, Hansson, Johan, additional, Hoiom, Veronica, additional, Pastorino, Lorenza, additional, Bouwes Bavinck, Jan Nico, additional, Aguilera, Paula, additional, Badenas, Celia, additional, Carrera, Cristina, additional, Gimenez-Xavier, Pol, additional, Malvehy, Josep, additional, Potrony, Miriam, additional, Puig-Butille, Joan Anton, additional, Tell-Marti, Gemma, additional, Dwyer, Terence, additional, Blizzard, Leigh, additional, Cochrane, Jennifer, additional, Fernandez-de-Misa, Ricardo, additional, Branicki, Wojciech, additional, Debniak, Tadeusz, additional, Morling, Niels, additional, Johansen, Peter, additional, Mayne, Susan, additional, Bale, Allen, additional, Cartmel, Brenda, additional, Pfeiffer, Ruth, additional, Palmieri, Giuseppe, additional, Menin, Chiara, additional, Kypreou, Katerina, additional, Bowcock, Anne, additional, Cornelius, Lynn, additional, Council, M. Laurin, additional, Anno, Sumiko, additional, Andresen, Per Arne, additional, Guida, Stefania, additional, and Wong, Terence H., additional

Published
2016
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32. MC1Rvariants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Bressac-de Paillerets, Brigitte, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Romanini, Antonella, Mazzoni, Laura, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, Player, Jon, Tse, Chiu-Kit, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Setlow, Richard, Mohrenweiser, Harvey, Autier, Philippe, Han, Jiali, Caini, Saverio, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Bishop, Tim, Elliott, Faye, Lazovich, DeAnn, Polsky, David, Hansson, Johan, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Blizzard, Leigh, Cochrane, Jennifer, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Stefania, and Wong, Terence H.

Abstract

Germline variants in the melanocortin 1 receptor gene (MC1R)might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1Rvariants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1Rvariants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.

Published
2019
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33. Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma

Author

Gill, Anthony J., primary, Hes, Ondrej, additional, Papathomas, Thomas, additional, Šedivcová, Monika, additional, Tan, Puay Hoon, additional, Agaimy, Abbas, additional, Andresen, Per Arne, additional, Kedziora, Andrew, additional, Clarkson, Adele, additional, Toon, Christopher W., additional, Sioson, Loretta, additional, Watson, Nicole, additional, Chou, Angela, additional, Paik, Julie, additional, Clifton-Bligh, Roderick J., additional, Robinson, Bruce G., additional, Benn, Diana E., additional, Hills, Kirsten, additional, Maclean, Fiona, additional, Niemeijer, Nicolasine D., additional, Vlatkovic, Ljiljana, additional, Hartmann, Arndt, additional, Corssmit, Eleonora P.M., additional, van Leenders, Geert J.L.H., additional, Przybycin, Christopher, additional, McKenney, Jesse K., additional, Magi-Galluzzi, Cristina, additional, Yilmaz, Asli, additional, Yu, Darryl, additional, Nicoll, Katherine D., additional, Yong, Jim L., additional, Sibony, Mathilde, additional, Yakirevich, Evgeny, additional, Fleming, Stewart, additional, Chow, Chung W., additional, Miettinen, Markku, additional, Michal, Michal, additional, and Trpkov, Kiril, additional

Published
2014
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35. Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

Author

Papathomas, Thomas G, primary, Gaal, Jose, additional, Corssmit, Eleonora P M, additional, Oudijk, Lindsey, additional, Korpershoek, Esther, additional, Heimdal, Ketil, additional, Bayley, Jean-Pierre, additional, Morreau, Hans, additional, van Dooren, Marieke, additional, Papaspyrou, Konstantinos, additional, Schreiner, Thomas, additional, Hansen, Torsten, additional, Andresen, Per Arne, additional, Restuccia, David F, additional, van Kessel, Ingrid, additional, van Leenders, Geert J L H, additional, Kros, Johan M, additional, Looijenga, Leendert H J, additional, Hofland, Leo J, additional, Mann, Wolf, additional, van Nederveen, Francien H, additional, Mete, Ozgur, additional, Asa, Sylvia L, additional, de Krijger, Ronald R, additional, and Dinjens, Winand N M, additional

Published
2014
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38. Surface-bounded growth modeling applied to human mandibles

Author

Andresen, Per Rønsholt

Subjects
adaptive Gaussian smoothing, mandible, morphometrics, automatic landmark detection, lineargrowth modeling, aperture-problem, extremal mesh, CT scans, non-rigid shape-preserving registration, homologous points, geometry-constrained diffusion, crest lines
Abstract

Denne afhandling anvender matematiske og datamatiske teknikker til tre-dimensional vækst-modellering af underkæber fra mennesker. Den tidsmæssige formændring af kæben, gør den til en kompleks knogle. Tænderne bryder frem og processus condylaris ændrer retning fra at pege overvejende bagud til at pege mere opad. Det fulde datasæt består af 31 underkæber fra seks patienter. Hver patient er CT-skannet over tid mellem tre og syv gange. Kæberne er mellem 1 måned og 12 år gamle. Vækstmodellering består af 3 overordnede skridt: bestemmelse af features; registrering af fælles features modellering af processen, der flytter de sammenhørende features (vækstmodellering). En lokal form feature, som kaldes crest line, har vist sig at være strukturel stabil på kæberne. Registrering af crest lines (fra forskellige kæber) resulterer i et sparsomt deformationsfelt, som skal interpoleres for at skabe et kompakt felt. Forskellige metoder til at konstruere et kompakt felt er sammenlignet. Adaptiv gaussisk glatning er den foretrukne, da den er parameterfri og giver gode resultater i praksis. En ny metode, geometry-constrained diffusion, benyttes til at simplificere deformationsfeltet. Det vises, at vækstmodellen herved forbedres signifikant. Den mest succesfulde vækstmodel er lineær og baseret på resultater fra formanalyse og principal komponent analyse. Vækstmodellen er blevet testet med gode resultater i et krydsvaliderings-forsøg. Worst case middel-modelleringsfejlen i krydsvalideringsforsøget er 3,7 mm. Fejlen optræder, når formen og størrelsen af en 12 årig underkæbe modelleres, baseret på en skanning fra 3 måneders alderen. Ved successivt at anvendte skanninger af nyere dato som basis for modellen, falder fejlen til 2,0 mm for 11-års skanningen. Det synes derfor rimeligt at antage, at underkæben vokser lineært. This thesis presents mathematical and computational techniques for three dimensional growth modeling applied to human mandibles. The longitudinal shape changes make the mandible a complex bone. The teeth erupt and the condylar processes change direction, from pointing predominantly backward to pointing more upward. The full dataset consists of 31 mandibles from six patients. Each patient is longitudinally CT scanned between three and seven times. Age range is 1 month to 12 years old for the scans. Growth modeling consists of three overall steps: 1.extraction of features. 2.registration of the common features. 3.model the process that moves the matched points (growth modeling). A local shape feature called crest line has shown itself to be structurally stable on mandibles. Registration of crest lines (from different mandibles) results in a sparse deformation field, which must be interpolated to yield a spatially dense field. Different methods for constructing the sparse field are compared. Adaptive Gaussian smoothing is the preferred method since it is parameter free and yields good results in practice. A new method, geometry-constrained diffusion, is used to simplify The most successful growth model is linear and based on results from shape analysis and principal component analysis. The growth model is tested in a cross validation study with good results. The worst case mean modeling error in the cross validation study is 3.7 mm. It occurs when modeling the shape and size of a 12 years old mandible based on the 3 month old scan. When using successively more recent scans as basis for the model the error drops to 2.0 mm for the 11 years old scan. Thus, it seems reasonable to assume that the mandibular growth is linear.

Published
1999

39. Feature displacement interpolation

Author

Nielsen, Mads and Andresen, Per Rønsholt

Abstract

Given a sparse set of feature matches, we want to compute an interpolated dense displacement map. The application may be stereo disparity computation, flowcomputation, or non-rigid medical registration. Also estimation of missing image data, may be phrased in this framework. Since the features often are verysparse, the interpolation model becomes crucial. We show that a maximum likelihood estimation based on the covariance properties (Kriging) show propertiesmore expedient than methods such as Gaussian interpolation or Tikhonov regularizations, also including scale-selection. The computational complexitiesare identical. We apply the maximum likelihood interpolation to growth analysis of the mandibular bone. Here, the features used are the crest-lines of the objectsurface.

Published
1998

43. Genome-wide association study identifies three new melanoma susceptibility loci

Author

Barrett, Jennifer H, primary, Iles, Mark M, additional, Harland, Mark, additional, Taylor, John C, additional, Aitken, Joanne F, additional, Andresen, Per Arne, additional, Akslen, Lars A, additional, Armstrong, Bruce K, additional, Avril, Marie-Francoise, additional, Azizi, Esther, additional, Bakker, Bert, additional, Bergman, Wilma, additional, Bianchi-Scarrà, Giovanna, additional, Bressac-de Paillerets, Brigitte, additional, Calista, Donato, additional, Cannon-Albright, Lisa A, additional, Corda, Eve, additional, Cust, Anne E, additional, Dębniak, Tadeusz, additional, Duffy, David, additional, Dunning, Alison M, additional, Easton, Douglas F, additional, Friedman, Eitan, additional, Galan, Pilar, additional, Ghiorzo, Paola, additional, Giles, Graham G, additional, Hansson, Johan, additional, Hocevar, Marko, additional, Höiom, Veronica, additional, Hopper, John L, additional, Ingvar, Christian, additional, Janssen, Bart, additional, Jenkins, Mark A, additional, Jönsson, Göran, additional, Kefford, Richard F, additional, Landi, Giorgio, additional, Landi, Maria Teresa, additional, Lang, Julie, additional, Lubiński, Jan, additional, Mackie, Rona, additional, Malvehy, Josep, additional, Martin, Nicholas G, additional, Molven, Anders, additional, Montgomery, Grant W, additional, van Nieuwpoort, Frans A, additional, Novakovic, Srdjan, additional, Olsson, Håkan, additional, Pastorino, Lorenza, additional, Puig, Susana, additional, Puig-Butille, Joan Anton, additional, Randerson-Moor, Juliette, additional, Snowden, Helen, additional, Tuominen, Rainer, additional, Van Belle, Patricia, additional, van der Stoep, Nienke, additional, Whiteman, David C, additional, Zelenika, Diana, additional, Han, Jiali, additional, Fang, Shenying, additional, Lee, Jeffrey E, additional, Wei, Qingyi, additional, Lathrop, G Mark, additional, Gillanders, Elizabeth M, additional, Brown, Kevin M, additional, Goldstein, Alisa M, additional, Kanetsky, Peter A, additional, Mann, Graham J, additional, MacGregor, Stuart, additional, Elder, David E, additional, Amos, Christopher I, additional, Hayward, Nicholas K, additional, Gruis, Nelleke A, additional, Demenais, Florence, additional, Bishop, Julia A Newton, additional, and Bishop, D Timothy, additional

Published
2011
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45. Affordable rental housing; a good view of the playing field

Author

Bohm, John F., Moran, James P., Jr., Platt, Leslie A., Smith, Daryl, Andresen, Per Krogh, Jr., Williams, A. Steve, Dale, Larry, Goetze, Charles, and Melkonian, Marilyn

Subjects
Mortgages -- Finance, Mortgage banks -- Finance, Housing -- Finance, Rental housing -- Economic aspects, Housing subsidies -- Analysis, Secondary mortgage market -- Finance, Banking, finance and accounting industries, Business, Real estate industry
Published
1988

47. 3-D techniques in studies of crainofacial anomalies

Author

Kreiborg, Sven, Andresen, Per, Cohen Jr., M. Michael, Darvann, T.A., Dobrzeniecki, Andy B., Hermann, Nuno V., Kitai, N., Larsen, Per, Nielsen, Mads, Quistorff, Bjørn, Saavedra, D., Schleidt, Dorte Trier, Therkelsen, Ib, Thuesen, Gøsta, Kreiborg, Sven, Andresen, Per, Cohen Jr., M. Michael, Darvann, T.A., Dobrzeniecki, Andy B., Hermann, Nuno V., Kitai, N., Larsen, Per, Nielsen, Mads, Quistorff, Bjørn, Saavedra, D., Schleidt, Dorte Trier, Therkelsen, Ib, and Thuesen, Gøsta

Abstract

Apert syndrome, CT scanning, JCA, MR scanning, TMJ

Published
2000

49. Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas

Author

De Angelis, Paula M., primary, Stokke, Trond, additional, Beigi, Marzieh, additional, Flatberg, Gøril, additional, Enger, Marianne, additional, Haug, Kristiane, additional, Aass, Hans Christian D., additional, Schjølberg, Aasa, additional, Andresen, Per Arne, additional, Ariansen, Sarah, additional, Bø, Anne Signe, additional, Mjåland, Odd, additional, and Clausen, Ole Petter, additional

Published
2007
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