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Grant Details

Grant Number: 5R01CA083115-15 Interpret this number
Primary Investigator: Kanetsky, Peter
Organization: H. Lee Moffitt Cancer Ctr & Res Inst
Project Title: Genetic Epidemiology of Melanoma (GENOMEL)
Fiscal Year: 2017
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Abstract

DESCRIPTION (provided by applicant): During its 1st funding cycle (2001-2006), GenoMEL, the melanoma genetics consortium, forged a common protocol for collection of biosample, phenotype and questionnaire information from melanoma families across the globe with the goal of better understanding the role of CDKN2A mutations in these families. At that time, GenoMEL also established two population-based case-control studies, one in the UK and one in Australia, both using identical collection methods. During its 2nd funding cycle (2006 - 2012), GenoMEL continued its research into high penetrance melanoma genetics through enhanced characterization of inherited CDKN2A mutations and a systematic search for novel high penetrance genes among CDKN2A (and CDK4) negative families. Concurrently at that time and supported by EU funds (2005-2011), GenoMEL also engaged in discovery of low penetrance susceptibility genes using a genome- wide scan approach. In this 3rd cycle R01 application, we seek to build off of information previously collected by GenoMEL over the past 10 years and propose a series of vitally important analytic questions focused on inherited genetics, sun exposure, and their combine effect. With the addition of limited and targeted new genotyping to be accomplished in this proposal, we seek to support novel analyses that will be undertaken by the continued collaborative efforts of members of the GenoMEL Analysis Team. First, we seek to determine the most informative SNPs or haplotypes in known melanoma susceptibility loci though imputation and modeling techniques. DNA samples from our UK and Australian population- based samples and our CDKN2A mutation carriers and non-carriers from our family-based study will be genotyped for a panel of these most informative SNPs/haplotypes. We will estimate the impact of these SNPs/haplotypes on melanoma risk separately in our population- based and multi-case family samples, and we will investigate whether these genetic effects are modified by different levels of cumulative and intermittent sun exposure measures in our study samples. Despite recent findings focused on genetic susceptibility to melanoma and our clear understanding of the importance of sun exposure to development of melanoma, the manner in which ultraviolet (UV) exposures come together with inherited genotypes and phenotypes to affect risk of melanoma remains poorly understood. GenoMEL is poised to address this knowledge gap.

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Publications

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
Authors: Potrony M. , Puig-Butille J.A. , Ribera-Sola M. , Iyer V. , Robles-Espinoza C.D. , Aguilera P. , Carrera C. , Malvehy J. , Badenas C. , Landi M.T. , et al. .
Source: The British Journal Of Dermatology, 2018-11-19 00:00:00.0; , .
EPub date: 2018-11-19 00:00:00.0.
PMID: 30451293
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Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
Authors: Zhang T. , Choi J. , Kovacs M.A. , Shi J. , Xu M. , NISC Comparative Sequencing Program , Melanoma Meta-Analysis Consortium , Goldstein A.M. , Trower A.J. , Bishop D.T. , et al. .
Source: Genome Research, 2018 Nov; 28(11), p. 1621-1635.
EPub date: 2018-10-17 00:00:00.0.
PMID: 30333196
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Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families.
Authors: Taylor N.J. , Mitra N. , Goldstein A.M. , Tucker M.A. , Avril M.F. , Azizi E. , Bergman W. , Bishop D.T. , Bressac-de Paillerets B. , Bruno W. , et al. .
Source: The Journal Of Investigative Dermatology, 2017-08-19 00:00:00.0; , .
EPub date: 2017-08-19 00:00:00.0.
PMID: 28830827
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Detection of desmoplastic melanoma with dermoscopy and reflectance confocal microscopy.
Authors: Maher N.G. , Solinas A. , Scolyer R.A. , Puig S. , Pellacani G. , Guitera P. .
Source: Journal Of The European Academy Of Dermatology And Venereology : Jeadv, 2017-06-02 00:00:00.0; , .
EPub date: 2017-06-02 00:00:00.0.
PMID: 28573666
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Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.
Authors: Ribero S. , Carrera C. , Tell-Marti G. , Pastorino C. , Badenas C. , Garcia A. , Malvehy J. , Puig S. .
Source: The British Journal Of Dermatology, 2017-05-27 00:00:00.0; , .
EPub date: 2017-05-27 00:00:00.0.
PMID: 28555837
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Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
Authors: Puig-Butille J.A. , Gimenez-Xavier P. , Visconti A. , Nsengimana J. , Garcia-García F. , Tell-Marti G. , Escamez M.J. , Newton-Bishop J. , Bataille V. , Del Río M. , et al. .
Source: Oncotarget, 2017-02-14 00:00:00.0; 8(7), p. 11589-11599.
PMID: 28030792
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A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants.
Authors: Vaysse A. , Fang S. , Brossard M. , Wei Q. , Chen W.V. , Mohamdi H. , Vincent-Fetita L. , Margaritte-Jeannin P. , Lavielle N. , Maubec E. , et al. .
Source: International Journal Of Cancer, 2016-11-01 00:00:00.0; 139(9), p. 2012-20.
EPub date: 2016-11-01 00:00:00.0.
PMID: 27347659
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Psychosocial, Clinical And Demographic Features Related To Worry In Patients With Melanoma
Authors: Rogers Z. , Elliott F. , Kasparian N.A. , Bishop D.T. , Barrett J.H. , Newton-Bishop J. .
Source: Melanoma Research, 2016 Oct; 26(5), p. 497-504.
PMID: 27196629
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Association Between Changes in Coronary Artery Disease Progression and Treatment With Biologic Agents for Severe Psoriasis.
Authors: Hjuler K.F. , Bøttcher M. , Vestergaard C. , Bøtker H.E. , Iversen L. , Kragballe K. .
Source: Jama Dermatology, 2016-10-01 00:00:00.0; 152(10), p. 1114-1121.
PMID: 27385305
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Characterization And Management Of Hedgehog Pathway Inhibitor-related Adverse Events In Patients With Advanced Basal Cell Carcinoma
Authors: Lacouture M.E. , Dréno B. , Ascierto P.A. , Dummer R. , Basset-Seguin N. , Fife K. , Ernst S. , Licitra L. , Neves R.I. , Peris K. , et al. .
Source: The Oncologist, 2016 Oct; 21(10), p. 1218-1229.
PMID: 27511905
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Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.
Authors: Grazziotin T.C. , Alarcon I. , Bonamigo R.R. , Carrera C. , Potrony M. , Aguilera P. , Puig-Butillé J.A. , Brito J. , Badenas C. , Alós L. , et al. .
Source: Jama Dermatology, 2016-10-01 00:00:00.0; 152(10), p. 1099-1105.
PMID: 27579522
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Discriminating Nevi from Melanomas: Clues and Pitfalls.
Authors: Carrera C. , Marghoob A.A. .
Source: Dermatologic Clinics, 2016 Oct; 34(4), p. 395-409.
PMID: 27692446
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Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival.
Authors: Potrony M. , Carreras E. , Aranda F. , Zimmer L. , Puig-Butille J.A. , Tell-Martí G. , Armiger N. , Sucker A. , Giménez-Xavier P. , Martínez-Florensa M. , et al. .
Source: International Journal Of Cancer, 2016-09-15 00:00:00.0; 139(6), p. 1297-302.
EPub date: 2016-05-31 00:00:00.0.
PMID: 27169428
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Development and External Validation of a Melanoma Risk Prediction Model Based on Self-assessed Risk Factors.
Authors: Vuong K. , Armstrong B.K. , Weiderpass E. , Lund E. , Adami H.O. , Veierod M.B. , Barrett J.H. , Davies J.R. , Bishop D.T. , Whiteman D.C. , et al. .
Source: Jama Dermatology, 2016-08-01 00:00:00.0; 152(8), p. 889-96.
PMID: 27276088
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Characterization Of Individuals At High Risk Of Developing Melanoma In Latin America: Bases For Genetic Counseling In Melanoma
Authors: Puig S. , Potrony M. , Cuellar F. , Puig-Butille J.A. , Carrera C. , Aguilera P. , Nagore E. , Garcia-Casado Z. , Requena C. , Kumar R. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2016 Jul; 18(7), p. 727-36.
PMID: 26681309
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Phenotypic And Histopathological Tumor Characteristics According To Cdkn2a Mutation Status Among Affected Members Of melanoma Families
Authors: Taylor N.J. , Handorf E.A. , Mitra N. , Avril M.F. , Azizi E. , Bergman W. , Bianchi-Scarrà G. , Bishop D.T. , Bressac-de Paillerets B. , Calista D. , et al. .
Source: The Journal Of Investigative Dermatology, 2016 May; 136(5), p. 1066-9.
PMID: 26827760
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Noninvasive Imaging For Nonmelanoma Skin Cancer
Authors: Giavedoni P. , Puig S. , Carrera C. .
Source: Seminars In Cutaneous Medicine And Surgery, 2016 Mar; 35(1), p. 31-41.
PMID: 26963115
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Germline Tert Promoter Mutations Are Rare In Familial Melanoma
Authors: Harland M. , Petljak M. , Robles-Espinoza C.D. , Ding Z. , Gruis N.A. , van Doorn R. , Pooley K.A. , Dunning A.M. , Aoude L.G. , Wadt K.A. , et al. .
Source: Familial Cancer, 2016 Jan; 15(1), p. 139-44.
PMID: 26433962
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Growth-Curve Modeling of Nevi With a Peripheral Globular Pattern.
Authors: Bajaj S. , Dusza S.W. , Marchetti M.A. , Wu X. , Fonseca M. , Kose K. , Brito J. , Carrera C. , Martins de Silva V.P. , Malvehy J. , et al. .
Source: Jama Dermatology, 2015-12-01 00:00:00.0; 151(12), p. 1338-1345.
PMID: 26287475
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Clinical And Dermoscopic Features Of Atypical Spitz Tumors: A Multicenter, Retrospective, Case-control Study
Authors: Moscarella E. , Lallas A. , Kyrgidis A. , Ferrara G. , Longo C. , Scalvenzi M. , Staibano S. , Carrera C. , Díaz M.A. , Broganelli P. , et al. .
Source: Journal Of The American Academy Of Dermatology, 2015 Nov; 73(5), p. 777-84.
PMID: 26475536
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In Vivo Reflectance Confocal Microscopy Of Equivocal Melanocytic Lesions Detected By Digital Dermoscopy Follow-up
Authors: Lovatto L. , Carrera C. , Salerni G. , Alós L. , Malvehy J. , Puig S. .
Source: Journal Of The European Academy Of Dermatology And Venereology : Jeadv, 2015 Oct; 29(10), p. 1918-25.
PMID: 25752663
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High Nevus Counts Confer A Favorable Prognosis In Melanoma Patients
Authors: Ribero S. , Davies J.R. , Requena C. , Carrera C. , Glass D. , Rull R. , Vidal-Sicart S. , Vilalta A. , Alos L. , Soriano V. , et al. .
Source: International Journal Of Cancer, 2015-10-01 00:00:00.0; 137(7), p. 1691-8.
PMID: 25809795
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Mutational Status Of Naevus-associated Melanomas
Authors: Shitara D. , Tell-Martí G. , Badenas C. , Enokihara M.M. , Alós L. , Larque A.B. , Michalany N. , Puig-Butille J.A. , Carrera C. , Malvehy J. , et al. .
Source: The British Journal Of Dermatology, 2015 Sep; 173(3), p. 671-80.
PMID: 25857817
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Effect Of Time To Sentinel-node Biopsy On The Prognosis Of Cutaneous Melanoma
Authors: Tejera-Vaquerizo A. , Nagore E. , Puig S. , Robert C. , Saiag P. , Martín-Cuevas P. , Gallego E. , Herrera-Acosta E. , Aguilera J. , Malvehy J. , et al. .
Source: European Journal Of Cancer (oxford, England : 1990), 2015 Sep; 51(13), p. 1780-93.
PMID: 26072362
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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Authors: Law M.H. , Bishop D.T. , Lee J.E. , Brossard M. , Martin N.G. , Moses E.K. , Song F. , Barrett J.H. , Kumar R. , Easton D.F. , et al. .
Source: Nature Genetics, 2015 Sep; 47(9), p. 987-95.
PMID: 26237428
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Update In Genetic Susceptibility In Melanoma
Authors: Potrony M. , Badenas C. , Aguilera P. , Puig-Butille J.A. , Carrera C. , Malvehy J. , Puig S. .
Source: Annals Of Translational Medicine, 2015 Sep; 3(15), p. 210.
PMID: 26488006
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25-hydroxyvitamin D2 /d3 Levels And Factors Associated With Systemic Inflammation And Melanoma Survival In The Leeds Melanoma Cohort
Authors: Newton-Bishop J.A. , Davies J.R. , Latheef F. , Randerson-Moor J. , Chan M. , Gascoyne J. , Waseem S. , Haynes S. , O'Donovan C. , Bishop D.T. .
Source: International Journal Of Cancer, 2015-06-15 00:00:00.0; 136(12), p. 2890-9.
PMID: 25403087
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Independent Replication Of A Melanoma Subtype Gene Signature And Evaluation Of Its Prognostic Value And Biological Correlates In A Population Cohort
Authors: Nsengimana J. , Laye J. , Filia A. , Walker C. , Jewell R. , Van den Oord J.J. , Wolter P. , Patel P. , Sucker A. , Schadendorf D. , et al. .
Source: Oncotarget, 2015-05-10 00:00:00.0; 6(13), p. 11683-93.
PMID: 25871393
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Melanoma Incidence Increases In The Elderly Of Catalonia But Not In The Younger Population: Effect Of Prevention Or Consequence Of Immigration?
Authors: Puig S. , Marcoval J. , Paradelo C. , Azon A. , Bartralot R. , Bel S. , Bigata X. , Boada A. , Campoy A. , Carrera C. , et al. .
Source: Acta Dermato-venereologica, 2015 Apr; 95(4), p. 422-6.
PMID: 25367888
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Accuracy Of Self-reported Nevus And Pigmentation Phenotype Compared With Clinical Assessment In A Population-based Study Of Young Australian Adults
Authors: Cust A.E. , Pickles K.M. , Goumas C. , Vu T. , Schmid H. , Nagore E. , Kelly J. , Aitken J.F. , Giles G.G. , Hopper J.L. , et al. .
Source: Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology, 2015 Apr; 24(4), p. 736-43.
PMID: 25628333
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Fine Mapping Of Genetic Susceptibility Loci For Melanoma Reveals A Mixture Of Single Variant And Multiple Variant Regions
Authors: Barrett J.H. , Taylor J.C. , Bright C. , Harland M. , Dunning A.M. , Akslen L.A. , Andresen P.A. , Avril M.F. , Azizi E. , Bianchi Scarrà G. , et al. .
Source: International Journal Of Cancer, 2015-03-15 00:00:00.0; 136(6), p. 1351-60.
PMID: 25077817
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Histologic Features Of Melanoma Associated With Cdkn2a Genotype
Authors: Sargen M.R. , Kanetsky P.A. , Newton-Bishop J. , Hayward N.K. , Mann G.J. , Gruis N.A. , Tucker M.A. , Goldstein A.M. , Bianchi-Scarra G. , Puig S. , et al. .
Source: Journal Of The American Academy Of Dermatology, 2015 Mar; 72(3), p. 496-507.e7.
PMID: 25592620
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The Clinicopathological And Gene Expression Patterns Associated With Ulceration Of Primary Melanoma
Authors: Jewell R. , Elliott F. , Laye J. , Nsengimana J. , Davies J. , Walker C. , Conway C. , Mitra A. , Harland M. , Cook M.G. , et al. .
Source: Pigment Cell & Melanoma Research, 2015 Jan; 28(1), p. 94-104.
PMID: 25220403
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Increased Prevalence Of Lung, Breast, And Pancreatic Cancers In Addition To Melanoma Risk In Families Bearing The Cyclin-dependent Kinase Inhibitor 2a Mutation: Implications For Genetic Counseling
Authors: Potrony M. , Puig-Butillé J.A. , Aguilera P. , Badenas C. , Carrera C. , Malvehy J. , Puig S. .
Source: Journal Of The American Academy Of Dermatology, 2014 Nov; 71(5), p. 888-95.
PMID: 25064638
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Inherited Variation In The Parp1 Gene And Survival From Melanoma
Authors: Davies J.R. , Jewell R. , Affleck P. , Anic G.M. , Randerson-Moor J. , Ozola A. , Egan K.M. , Elliott F. , García-Casado Z. , Hansson J. , et al. .
Source: International Journal Of Cancer, 2014-10-01 00:00:00.0; 135(7), p. 1625-33.
PMID: 24535833
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Tert Gene Amplification Is Associated With Poor Outcome In Acral Lentiginous Melanoma
Authors: Diaz A. , Puig-Butillé J.A. , Muñoz C. , Costa D. , Díez A. , Garcia-Herrera A. , Carrera C. , Badenas C. , Solé F. , Malvehy J. , et al. .
Source: Journal Of The American Academy Of Dermatology, 2014 Oct; 71(4), p. 839-41.
PMID: 25219713
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The Effect On Melanoma Risk Of Genes Previously Associated With Telomere Length
Authors: Iles M.M. , Bishop D.T. , Taylor J.C. , Hayward N.K. , Brossard M. , Cust A.E. , Dunning A.M. , Lee J.E. , Moses E.K. , Akslen L.A. , et al. .
Source: Journal Of The National Cancer Institute, 2014 Oct; 106(10), .
PMID: 25231748
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Tert Promoter Mutation Status As An Independent Prognostic Factor In Cutaneous Melanoma
Authors: Griewank K.G. , Murali R. , Puig-Butille J.A. , Schilling B. , Livingstone E. , Potrony M. , Carrera C. , Schimming T. , Möller I. , Schwamborn M. , et al. .
Source: Journal Of The National Cancer Institute, 2014 Sep; 106(9), .
PMID: 25217772
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Clinical And Histopathological Characteristics Between Familial And Sporadic Melanoma In Barcelona, Spain
Authors: Aguilera P. , Malvehy J. , Carrera C. , Palou J. , Puig-Butillé J.A. , Alòs L. , Badenas C. , Puig S. .
Source: Journal Of Clinical & Experimental Dermatology Research, 2014 Sep; 5(5), p. 231.
PMID: 25893138
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Green Colour As A Novel Dermoscopic Finding In The Diagnosis Of Haemosiderotic Dermatofibroma
Authors: Roldán-Marín R. , Barreiro-Capurro A. , García-Herrera A. , Puig S. , Alarcón-Salazar I. , Carrera C. , Malvehy J. .
Source: The Australasian Journal Of Dermatology, 2014 Aug; 55(3), p. 196-7.
PMID: 23866059
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In Vivo Reflectance Confocal Microscopy To Monitor The Response Of Lentigo Maligna To Imiquimod
Authors: Alarcon I. , Carrera C. , Alos L. , Palou J. , Malvehy J. , Puig S. .
Source: Journal Of The American Academy Of Dermatology, 2014 Jul; 71(1), p. 49-55.
PMID: 24725478
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Occupational sun exposure and risk of melanoma according to anatomical site.
Authors: Vuong K. , McGeechan K. , Armstrong B.K. , AMFS Investigators , GEM Investigators , Cust A.E. .
Source: International Journal Of Cancer, 2014-06-01 00:00:00.0; 134(11), p. 2735-41.
EPub date: 2014-06-01 00:00:00.0.
PMID: 24288300
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Targeting Human Apurinic/apyrimidinic Endonuclease 1 (ape1) In Phosphatase And Tensin Homolog (pten) Deficient Melanoma Cells For Personalized Therapy
Authors: Abbotts R. , Jewell R. , Nsengimana J. , Maloney D.J. , Simeonov A. , Seedhouse C. , Elliott F. , Laye J. , Walker C. , Jadhav A. , et al. .
Source: Oncotarget, 2014-05-30 00:00:00.0; 5(10), p. 3273-86.
PMID: 24830350
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Impact Of In Vivo Reflectance Confocal Microscopy On The Number Needed To Treat Melanoma In Doubtful Lesions
Authors: Alarcon I. , Carrera C. , Palou J. , Alos L. , Malvehy J. , Puig S. .
Source: The British Journal Of Dermatology, 2014 Apr; 170(4), p. 802-8.
PMID: 24124911
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Capturing The Biological Impact Of Cdkn2a And Mc1r Genes As An Early Predisposing Event In Melanoma And Non Melanoma Skin Cancer
Authors: Puig-Butille J.A. , Escámez M.J. , Garcia-Garcia F. , Tell-Marti G. , Fabra À. , Martínez-Santamaría L. , Badenas C. , Aguilera P. , Pevida M. , Dopazo J. , et al. .
Source: Oncotarget, 2014-03-30 00:00:00.0; 5(6), p. 1439-51.
PMID: 24742402
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An Inherited Variant In The Gene Coding For Vitamin D-binding Protein And Survival From Cutaneous Melanoma: A Biogenomel Study
Authors: Davies J.R. , Field S. , Randerson-Moor J. , Harland M. , Kumar R. , Anic G.M. , Nagore E. , Hansson J. , Höiom V. , Jönsson G. , et al. .
Source: Pigment Cell & Melanoma Research, 2014 Mar; 27(2), p. 234-43.
PMID: 24219834
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Prevalence And Predictors Of Germline Cdkn2a Mutations For Melanoma Cases From Australia, Spain And The United Kingdom
Authors: Harland M. , Cust A.E. , Badenas C. , Chang Y.M. , Holland E.A. , Aguilera P. , Aitken J.F. , Armstrong B.K. , Barrett J.H. , Carrera C. , et al. .
Source: Hereditary Cancer In Clinical Practice, 2014; 12(1), p. 20.
PMID: 25780468
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Distribution Of Mc1r Variants Among Melanoma Subtypes: P.r163q Is Associated With Lentigo Maligna Melanoma In A Mediterranean Population
Authors: Puig-Butillé J.A. , Carrera C. , Kumar R. , Garcia-Casado Z. , Badenas C. , Aguilera P. , Malvehy J. , Nagore E. , Puig S. .
Source: The British Journal Of Dermatology, 2013 Oct; 169(4), p. 804-11.
PMID: 23647022
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Surveillance Of Second-degree Relatives From Melanoma Families With A Cdkn2a Germline Mutation
Authors: van der Rhee J.I. , Boonk S.E. , Putter H. , Cannegieter S.C. , Flinterman L.E. , Hes F.J. , de Snoo F.A. , Mooi W.J. , Gruis N.A. , Vasen H.F. , et al. .
Source: Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology, 2013 Oct; 22(10), p. 1771-7.
PMID: 23897584
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Benefits Of Oral Polypodium Leucotomos Extract In Mm High-risk Patients
Authors: Aguilera P. , Carrera C. , Puig-Butille J.A. , Badenas C. , Lecha M. , González S. , Malvehy J. , Puig S. .
Source: Journal Of The European Academy Of Dermatology And Venereology : Jeadv, 2013 Sep; 27(9), p. 1095-100.
PMID: 22849563
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