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{userid:"rene.villadsen",  _thumb:'_thumb.png', "refid":"34","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"AXL Is a Driver of Stemness in Normal Mammary Gland and Breast Cancer.","year":"2020","author":"Agnete S T Engelsen, Katarzyna Wnuk-Lipinska, Sebastien Bougnaud, Fanny A Pelissier Vatter, Crina Tiron, Ren\u00e9 Villadsen, Masaru Miyano, Maria L Lotsberg, No\u00eblly Madeleine, Pouda Panahandeh, Sushil Dhakal, Tuan Zea Tan, Stacey D'mello Peters, Sturla Gr\u00f8ndal, Sura M Aziz, Silje Nord, Lars Herfindal, Martha R Stampfer, Therese S\u00f8rlie, Rolf A Brekken, Oddbj\u00f8rn Straume, Nils Halberg, Gro Gausdal, Jean Paul Thiery, Lars A Akslen, Ole W Petersen, Mark A LaBarge, James B Lorens","journal":"iScience","volume":"23","number":"11","pages":"","month":"Nov","doi":"10.1016\/j.isci.2020.101649","pubmed":"33103086","pdflink":"","urllink":"","weight":34,"abstract":"The receptor tyrosine kinase AXL is associated with epithelial plasticity in several solid tumors including breast cancer and AXL-targeting agents are currently in clinical trials. We hypothesized that AXL is a driver of stemness traits in cancer by co-option of a regulatory function normally reserved for stem cells. AXL-expressing cells in human mammary epithelial ducts co-expressed markers associated with multipotency, and AXL inhibition abolished colony formation and self-maintenance activities while promoting terminal differentiation . -null mice did not exhibit a strong developmental phenotype, but enrichment of  cells was required for mouse mammary gland reconstitution upon transplantation, and null mice had reduced incidence of driven mammary tumors. An AXL-dependent gene signature is a feature of transcriptomes in basal breast cancers and reduced patient survival irrespective of subtype. Our interpretation is that AXL regulates access to epithelial plasticity programs in MaSCs and, when co-opted, maintains acquired stemness in breast cancer cells.","note":"","tags":"","publisher":"","booktitle":"","editor":"","address":"","school":"","issn":"2589-0042","isi":"","key":"Engelsen2020","howpublished":""}
,

{userid:"molven", "articletype":"article","pages":"","author":"Mark M Iles, D Timothy Bishop, John C Taylor, Nicholas K Hayward, Myriam Brossard, Anne E Cust, Alison M Dunning, Jeffrey E Lee, Eric K Moses, Lars A Akslen,  , Per A Andresen, Marie-Fran\u00e7oise Avril, Esther Azizi, Giovanna Bianchi Scarr\u00e0, Kevin M Brown, Tadeusz D\u0119bniak, David E Elder, Eitan Friedman, Paola Ghiorzo, Elizabeth M Gillanders, Alisa M Goldstein, Nelleke A Gruis, Johan Hansson, Mark Harland, Per Helsing, Marko Ho\u010devar, Veronica H\u00f6iom,  , Christian Ingvar, Peter A Kanetsky, Maria Teresa Landi, Julie Lang, G Mark Lathrop, Jan Lubi\u0144ski, Rona M Mackie, Nicholas G Martin, Anders Molven, Grant W Montgomery, Srdjan Novakovi\u0107, H\u00e5kan Olsson, Susana Puig, Joan Anton Puig-Butille,  , Graham L Radford-Smith, Juliette Randerson-Moor,  , Nienke van der Stoep, Remco van Doorn, David C Whiteman, Stuart MacGregor, Karen A Pooley, Sarah V Ward, Graham J Mann, Christopher I Amos, Paul D P Pharoah, Florence Demenais, Matthew H Law, Julia A Newton Bishop, Jennifer H Barrett,  ","year":"2014","title":"The effect on melanoma risk of genes previously associated with telomere length.","month":"Oct","journal":"Journal of the National Cancer Institute","publisher":"","volume":"106","number":"10","note":"","tags":"Australia,Confounding Factors (Epidemiology),DNA Helicases,Europe,Germ-Line Mutation,Humans,Israel,Melanoma,Polymorphism, Single Nucleotide,Predictive Value of Tests,RNA,Research Design,Ribonucleoproteins,Skin Neoplasms,Telomerase,Telomere,Telomere-Binding Proteins,United States,Zinc Fingers","booktitle":"","editor":"","abstract":"Telomere length has been associated with risk of many cancers, but results are inconsistent. Seven single nucleotide polymorphisms (SNPs) previously associated with mean leukocyte telomere length were either genotyped or well-imputed in 11108 case patients and 13933 control patients from Europe, Israel, the United States and Australia, four of the seven SNPs reached a P value under .05 (two-sided). A genetic score that predicts telomere length, derived from these seven SNPs, is strongly associated (P = 8.92x10(-9), two-sided) with melanoma risk. This demonstrates that the previously observed association between longer telomere length and increased melanoma risk is not attributable to confounding via shared environmental effects (such as ultraviolet exposure) or reverse causality. We provide the first proof that multiple germline genetic determinants of telomere length influence cancer risk.","address":"","school":"","issn":"1460-2105","doi":"10.1093\/jnci\/dju267","isi":"","pubmed":"25231748","key":"Iles2014","howpublished":"","urllink":"","refid":189,"weight":189}
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{userid:"molven", "articletype":"article","pages":"987-995","author":"Matthew H Law, D Timothy Bishop, Jeffrey E Lee, Myriam Brossard, Nicholas G Martin, Eric K Moses, Fengju Song, Jennifer H Barrett, Rajiv Kumar, Douglas F Easton, Paul D P Pharoah, Anthony J Swerdlow, Katerina P Kypreou, John C Taylor, Mark Harland, Juliette Randerson-Moor, Lars A Akslen, Per A Andresen, Marie-Fran\u00e7oise Avril, Esther Azizi, Giovanna Bianchi Scarr\u00e0, Kevin M Brown, Tadeusz D\u0119bniak, David L Duffy, David E Elder, Shenying Fang, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Elizabeth M Gillanders, Alisa M Goldstein, Nelleke A Gruis, Johan Hansson, Per Helsing, Marko Ho\u010devar, Veronica H\u00f6iom, Christian Ingvar, Peter A Kanetsky, Wei V Chen,  ,  ,  ,  ,  ,  , Maria Teresa Landi, Julie Lang, G Mark Lathrop, Jan Lubi\u0144ski, Rona M Mackie, Graham J Mann, Anders Molven, Grant W Montgomery, Srdjan Novakovi\u0107, H\u00e5kan Olsson, Susana Puig, Joan Anton Puig-Butille, Abrar A Qureshi, Graham L Radford-Smith, Nienke van der Stoep, Remco van Doorn, David C Whiteman, Jamie E Craig, Dirk Schadendorf, Lisa A Simms, Kathryn P Burdon, Dale R Nyholt, Karen A Pooley, Nick Orr, Alexander J Stratigos, Anne E Cust, Sarah V Ward, Nicholas K Hayward, Jiali Han, Hans-Joachim Schulze, Alison M Dunning, Julia A Newton Bishop, Florence Demenais, Christopher I Amos, Stuart MacGregor, Mark M Iles","year":"2015","title":"Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.","month":"Sep","journal":"Nature genetics","publisher":"","volume":"47","number":"9","note":"","tags":"Case-Control Studies,Chromosomes, Human,Genetic Loci,Genetic Predisposition to Disease,Genome-Wide Association Study,Humans,Melanoma,Polymorphism, Single Nucleotide,Skin Neoplasms","booktitle":"","editor":"","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 \u00d7 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.","address":"","school":"","issn":"1546-1718","doi":"10.1038\/ng.3373","isi":"","pubmed":"26237428","key":"Law2015","howpublished":"","urllink":"","refid":202,"weight":202}
,

{userid:"molven", "articletype":"article","pages":"428-32, 432e1","author":"Mark M Iles, Matthew H Law, Simon N Stacey, Jiali Han, Shenying Fang, Ruth Pfeiffer, Mark Harland, Stuart Macgregor, John C Taylor, Katja K Aben, Lars A Akslen, Marie-Fran\u00e7oise Avril, Esther Azizi, Bert Bakker, Kristrun R Benediktsdottir, Wilma Bergman, Giovanna Bianchi Scarr\u00e0, Kevin M Brown, Donato Calista, Val\u00e9rie Chaudru, Maria Concetta Fargnoli, Anne E Cust, Florence Demenais, Anne C de Waal, Tadeusz D\u0119bniak, David E Elder, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Elizabeth M Gillanders, Alisa M Goldstein, Nelleke A Gruis, Johan Hansson, Per Helsing, Marko Ho\u010devar, Veronica H\u00f6iom, John L Hopper, Christian Ingvar, Marjolein Janssen, Mark A Jenkins, Peter A Kanetsky, Lambertus A Kiemeney, Julie Lang, G Mark Lathrop, Sancy Leachman, Jeffrey E Lee, Jan Lubi\u0144ski, Rona M Mackie, Graham J Mann, Nicholas G Martin, Jose I Mayordomo, Anders Molven, Suzanne Mulder, Eduardo Nagore, Srdjan Novakovi\u0107, Ichiro Okamoto, Jon H Olafsson, H\u00e5kan Olsson, Hubert Pehamberger, Ketty Peris, Maria Pilar Grasa, Dolores Planelles, Susana Puig, Joan Anton Puig-Butille, Juliette Randerson-Moor, Celia Requena, Licia Rivoltini, Monica Rodolfo, Mario Santinami, Bardur Sigurgeirsson, Helen Snowden, Fengju Song, Patrick Sulem, Kristin Thorisdottir, Rainer Tuominen, Patricia Van Belle, Nienke van der Stoep, Michelle M van Rossum, Qingyi Wei, Judith Wendt, Diana Zelenika, Mingfeng Zhang, Maria Teresa Landi, Gudmar Thorleifsson, D Timothy Bishop, Christopher I Amos, Nicholas K Hayward, Kari Stefansson, Julia A Newton Bishop, Jennifer H Barrett,  ,  ","year":"2013","title":"A variant in FTO shows association with melanoma risk not due to BMI.","month":"Apr","journal":"Nature genetics","publisher":"","volume":"45","number":"4","note":"","tags":"Body Mass Index,Case-Control Studies,Cooperative Behavior,Female,Genetic Loci,Genetic Predisposition to Disease,Genome-Wide Association Study,Genotype,Humans,Melanoma,Meta-Analysis as Topic,Obesity,Polymorphism, Single Nucleotide,Proteins,Risk Factors","booktitle":"","editor":"","abstract":"We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 \u00d7 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanoma-susceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.","address":"","school":"","issn":"1546-1718","doi":"10.1038\/ng.2571","isi":"","pubmed":"23455637","key":"Iles2013","howpublished":"","urllink":"","refid":134,"weight":134}
,

{userid:"molven", "articletype":"article","pages":"1108-1113","author":"Jennifer H Barrett, Mark M Iles, Mark Harland, John C Taylor, Joanne F Aitken, Per Arne Andresen, Lars A Akslen, Bruce K Armstrong, Marie-Francoise Avril, Esther Azizi, Bert Bakker, Wilma Bergman, Giovanna Bianchi-Scarr\u00e0, Brigitte Bressac-de Paillerets, Donato Calista, Lisa A Cannon-Albright, Eve Corda, Anne E Cust, Tadeusz D\u0119bniak, David Duffy, Alison M Dunning, Douglas F Easton, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Graham G Giles, Johan Hansson, Marko Hocevar, Veronica H\u00f6iom, John L Hopper, Christian Ingvar, Bart Janssen, Mark A Jenkins, G\u00f6ran J\u00f6nsson, Richard F Kefford, Giorgio Landi, Maria Teresa Landi, Julie Lang, Jan Lubi\u0144ski, Rona Mackie, Josep Malvehy, Nicholas G Martin, Anders Molven, Grant W Montgomery, Frans A van Nieuwpoort, Srdjan Novakovic, H\u00e5kan Olsson, Lorenza Pastorino, Susana Puig, Joan Anton Puig-Butille, Juliette Randerson-Moor, Helen Snowden, Rainer Tuominen, Patricia Van Belle, Nienke van der Stoep, David C Whiteman, Diana Zelenika, Jiali Han, Shenying Fang, Jeffrey E Lee, Qingyi Wei, G Mark Lathrop, Elizabeth M Gillanders, Kevin M Brown, Alisa M Goldstein, Peter A Kanetsky, Graham J Mann, Stuart Macgregor, David E Elder, Christopher I Amos, Nicholas K Hayward, Nelleke A Gruis, Florence Demenais, Julia A Newton Bishop, D Timothy Bishop,  ","year":"2011","title":"Genome-wide association study identifies three new melanoma susceptibility loci.","month":"Nov","journal":"Nature genetics","publisher":"","volume":"43","number":"11","note":"","tags":"Case-Control Studies,Genetic Predisposition to Disease,Genome-Wide Association Study,Humans,Melanoma,Polymorphism, Single Nucleotide,Skin Neoplasms","booktitle":"","editor":"","abstract":"We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 \u00d7 10(-9)), an SNP in MX2 (rs45430, P = 2.9 \u00d7 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 \u00d7 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 \u00d7 10(-7) under a fixed-effects model and P = 1.2 \u00d7 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.","address":"","school":"","issn":"1546-1718","doi":"10.1038\/ng.959","isi":"","pubmed":"21983787","key":"Barrett2011","howpublished":"","urllink":"","refid":145,"weight":145}
,

{userid:"molven", "articletype":"article","pages":"494-504","author":"Maria Teresa Landi, D Timothy Bishop, Stuart MacGregor, Mitchell J Machiela, Alexander J Stratigos, Paola Ghiorzo, Myriam Brossard, Donato Calista, Jiyeon Choi, Maria Concetta Fargnoli, Tongwu Zhang, Monica Rodolfo, Adam J Trower, Chiara Menin, Jacobo Martinez, Andreas Hadjisavvas, Lei Song, Irene Stefanaki, Richard Scolyer, Rose Yang, Alisa M Goldstein, Miriam Potrony, Katerina P Kypreou, Lorenza Pastorino, Paola Queirolo, Cristina Pellegrini, Laura Cattaneo, Matthew Zawistowski, Pol Gimenez-Xavier, Arantxa Rodriguez, Lisa Elefanti, Siranoush Manoukian, Licia Rivoltini, Blair H Smith, Maria A Loizidou, Laura Del Regno, Daniela Massi, Mario Mandala, Kiarash Khosrotehrani, Lars A Akslen, Christopher I Amos, Per A Andresen, Marie-Fran\u00e7oise Avril, Esther Azizi, H Peter Soyer, Veronique Bataille, Bruna Dalmasso, Lisa M Bowdler, Kathryn P Burdon, Wei V Chen, Veryan Codd, Jamie E Craig, Tadeusz D\u0119bniak, Mario Falchi, Shenying Fang, Eitan Friedman, Sarah Simi, Pilar Galan, Zaida Garcia-Casado, Elizabeth M Gillanders, Scott Gordon, Adele Green, Nelleke A Gruis, Johan Hansson, Mark Harland, Jessica Harris, Per Helsing, Anjali Henders, Marko Ho\u010devar, Veronica H\u00f6iom, David Hunter, Christian Ingvar, Rajiv Kumar, Julie Lang, G Mark Lathrop, Jeffrey E Lee, Xin Li, Jan Lubi\u0144ski, Rona M Mackie, Maryrose Malt, Josep Malvehy, Kerrie McAloney, Hamida Mohamdi, Anders Molven, Eric K Moses, Rachel E Neale, Srdjan Novakovi\u0107, Dale R Nyholt, H\u00e5kan Olsson, Nicholas Orr, Lars G Fritsche, Joan Anton Puig-Butille, Abrar A Qureshi, Graham L Radford-Smith, Juliette Randerson-Moor, Celia Requena, Casey Rowe, Nilesh J Samani, Marianna Sanna, Dirk Schadendorf, Hans-Joachim Schulze, Lisa A Simms, Mark Smithers, Fengju Song, Anthony J Swerdlow, Nienke van der Stoep, Nicole A Kukutsch, Alessia Visconti, Leanne Wallace, Sarah V Ward, Lawrie Wheeler, Richard A Sturm, Amy Hutchinson, Kristine Jones, Michael Malasky, Aurelie Vogt, Weiyin Zhou, Karen A Pooley, David E Elder, Jiali Han, Belynda Hicks, Nicholas K Hayward, Peter A Kanetsky, Chad Brummett, Grant W Montgomery, Catherine M Olsen, Caroline Hayward, Alison M Dunning, Nicholas G Martin, Evangelos Evangelou, Graham J Mann, Georgina Long, Paul D P Pharoah, Douglas F Easton, Jennifer H Barrett, Anne E Cust, Goncalo Abecasis, David L Duffy, David C Whiteman, Helen Gogas, Arcangela De Nicolo, Margaret A Tucker, Julia A Newton-Bishop,  ,  ,  ,  ,  ,  ,  ,  ,  , Ketty Peris, Stephen J Chanock, Florence Demenais, Kevin M Brown, Susana Puig, Eduardo Nagore, Jianxin Shi, Mark M Iles, Matthew H Law","year":"2020","title":"Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.","month":"05","journal":"Nature genetics","publisher":"","volume":"52","number":"5","note":"","tags":"Female,Genetic Loci,Genetic Predisposition to Disease,Genome-Wide Association Study,Genotype,Humans,Male,Melanoma,Phenotype,Pigmentation,Polymorphism, Single Nucleotide,Skin Neoplasms","booktitle":"","editor":"","abstract":"Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P\u2009<\u20095\u2009\u00d7\u200910) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis.","address":"","school":"","issn":"1546-1718","doi":"10.1038\/s41588-020-0611-8","isi":"","pubmed":"32341527","key":"Landi2020","howpublished":"","urllink":"","refid":230,"weight":230}
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