GenoMEL Publications

GenoMEL publications

2023

Published in JAAD International
Goldstein AM, Qin R, Chu EY, Elder DE, Massi D, Adams DJ, et al.
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
JAAD Int. 2023;11:43-51. Published 2023 Jan 30. doi:10.1016/j.jdin.2023.01.013

Published in EBioMedicine
Haycock PC, Borges MC, Burrows K, Lemaitre RN, Burgess S, Khankari NK, et al.
The association between genetically elevated polyunsaturated fatty acids and risk of cancer.
EBioMedicine. 2023;91:104510. doi:10.1016/j.ebiom.2023.104510

Published in the Journal of the National Cancer Institute
Lindström S, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, et al.
Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions.
J Natl Cancer Inst. 2023 Jun 8;115(6):712-732. doi: 10.1093/jnci/djad043.
PMID: 36929942

Published in the Journal of Medical Genetics
Simonin-Wilmer I, Ossio R, Leddin EM, Harland M, Pooley KA, Martil de la Garza MG, et al.
Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort.
J Med Genet. 2023;60(7):692-696. doi:10.1136/jmg-2022-108776

Published in Movement Disorders
Sugier P-E, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, et al.
Investigation of Shared Genetic Risk Factors Between Parkinson’s Disease and Cancers.
Mov Disord. 2023;38(4):604-615. doi:10.1002/mds.29337

Published in Cancer Discovery
Suresh S, Rabbie R, Garg M, Lumaquin D, Huang TH, Montal E, et al.
Identifying the Transcriptional Drivers of Metastasis Embedded within Localized Melanoma.
Cancer Discov. 2023 Jan 9;13(1):194-215. doi: 10.1158/2159-8290.CD-22-0427.
PMID: 36259947 Free PMC article.

2022

Published in JCO Precision Oncology
Astiazaran-Symonds E, Graham C, Kim J, Tucker MA, Ingvar C, Helgadottir H, et al.
Gene-level associations in patients with and without pathogenic germline variants in CDKN2A and pancreatic cancer.
JCO Precis Oncol. 2022;6:e2200145. Epub 2022/11/22. doi: 10.1200/PO.22.00145. PubMed PMID: 36409970.

Published in the Journal of Pathology
Birkeälv S, Harland M, Matsuyama LSAS, Rashid M, Mehta I, Laye JP, et al.
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
J Pathol. 2023 Jan;259(1):56-68. doi: 10.1002/path.6019. Epub 2022 Nov 9.
PMID: 36219477 Free PMC article.

Published in Familial Cancer
Brown, K. M., Xu, M., Sargen, M., Jang, H., Zhang, M., Zhang, T., et al.
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Fam Cancer. 2022;21(3), 347–355. https://doi.org/10.1007/s10689-021-00267-9

Published in Human Molecular Genetics
Cardinale A, Cantalupo S, Lasorsa VA, Montella A, Cimmino F, Succoio M, et al.
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.
Hum Mol Genet. 2022 Mar 21;31(6), 863–874. https://doi.org/10.1093/hmg/ddab293

Published in Human Molecular Genetics
Castaneda-Garcia, C., Iyer, V., Nsengimana, J., Trower, A., Droop, A., Brown, K. M., et al.
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Hum Mol Genet. 2022;31(17), 2845–2856. https://doi.org/10.1093/hmg/ddac074

Published in Pigment Cell & Melanoma Research
Davies J, Muralidhar S, Randerson-Moor J, Harland M, O’Shea S, Diaz J, et al.
Ulcerated melanoma: Systems biology evidence of inflammatory imbalance towards pro-tumourigenicity.
Pigment Cell Melanoma Res. 2022 Mar;35(2):252-267. doi: 10.1111/pcmr.13023. Epub 2021 Dec 22 PMID: 34826184

Published in the Journal of Investigative Dermatology
Liyanage U, MacGregor S, Bishop DT, Shi J, An J, Ong JS, et al.
Multi-trait genetic analysis identifies auto-immune loci associated with cutaneous melanoma.
J Invest Dermatol. 2022;142(8), pp. 1607-1616

Published in the American Journal of Human Genetics
Long, E., Yin, J., Funderburk, K. M., Xu, M., Feng, J., Kane, A., et al.
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity.
Am J Hum Genet. 2022;109(12), 2210–2229. https://doi.org/10.1016/j.ajhg.2022.11.006

Published in the Journal of Translational Medicine
Seviiri M, Scolyer RA, Bishop DT, Newton-Bishop JA, Iles MM, Lo SN, et al.
Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.
J Transl Med. 2022;20(1):403. Published 2022 Sep 5. doi:10.1186/s12967-022-03613-2

Published in the British Journal of Dermatology
Steinberg J, Iles MM, Lee JY, Wang X, Law MH, Smit AK, et al.
Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.
Br J Dermatol. 2022;186(5), pp. 823-834

2021

Published in the Journal of Clinical Pathology
Bernardes SS, Ferreira I, Elder DE, Nobre AB, Martínez-Said H, Adams DJ, et al.
More than just acral melanoma: the controversies of defining the disease.
J Pathol Clin Res. 2021 Nov;7(6):531-541. doi: 10.1002/cjp2.233. Epub 2021 Jul 2.
PMID: 34213090 Free PMC article. Review.

Published in Developmental Cell
Campbell NR, Rao A, Hunter MV, Sznurkowska MK, Briker L, Zhang M, et al.
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formation.
Dev Cell. 2021 Oct 25;56(20):2808-2825.e10. doi: 10.1016/j.devcel.2021.08.018. Epub 2021 Sep 15. PMID: 34529939 Free PMC article.

Published in Human Genetics and Genomics Advances
Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, et al.
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
HGG advances. 2021;2(3):100041. https://doi.org/10.1016/j.xhgg.2021.100041

Published in Genetics in Medicine
Dalmasso, B., Pastorino, L., Nathan, V., Shah, N. N., Palmer, J. M., Howlie, M., et al.
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Genet Med. 2021;23(11), 2087–2095. https://doi.org/10.1038/s41436-021-01240-8

Published in Modern Pathology
Ferreira I, Droop A, Edwards O, Wong K, Harle V, Habeeb O, et al.
The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma.
Mod Pathol. 2021 Nov;34(11):2009-2019. doi: 10.1038/s41379-021-00857-z. Epub 2021 Jun 21.
PMID: 34155350

Published in Nature Communications
Garg M, Couturier DL, Nsengimana J, Fonseca NA, Wongchenko M, Yan Y, et al.
Tumour gene expression signature in primary melanoma predicts long-term outcomes.
Nat Commun. 2021 Feb 18;12(1):1137. doi: 10.1038/s41467-021-21207-2.
PMID: 33602918 Free PMC article.

Published in Familial Cancer
Holland, E. A., Lo, S., Kelly, B., Schmid, H., Cust, A. E., Palmer, J. M., et al.
FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.
Fam Cancer. 2021;20(3):231-239. doi:10.1007/s10689-020-00209-x

Published in Nature
Kalaora S, Nagler A, Nejman D, Alon M, Barbolin C, Barnea E, et al.
Identification of bacteria-derived HLA-bound peptides in melanoma.
Nature. 2021 Apr;592(7852):138-143. doi: 10.1038/s41586-021-03368-8. Epub 2021 Mar 17.
PMID: 33731925 Free PMC article.

Published in BMC Public Health
Lacson JCA, Zamani SA, Froes LAR Jr, Mitra N, Qian L, Doyle SH, et al.
Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families.
BMC Public Health. 2021 Apr 23;21(1):692. doi: 10.1186/s12889-021-10424-5.
PMID: 33888076

Published in the British Journal of Dermatology
Laskar R, Ferreiro‐Iglesias A, Bishop DT, Iles MM, Kanetsky PA, Armstrong BK, et al.
Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity.
Br J Dermatol. 2020; 184(6), 1085–1093. https://doi.org/10.1111/bjd.19705

Published in Nature Communications
Ong J-S, Dixon-Suen SC, Han X, An J, Liyanage U, Dusingize J-C, et al.
A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization.
Nat Commun. 2021 Jan 11;12, 246. doi: https://doi.org/10.1038/s41467-020-20368-w

Published in the Journal of Medical Genetics
Potjer TP, van der Grinten TWJ, Lakeman IMM, Bollen SH, Rodríguez-Girondo M, Iles MM, et al.
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
J Med Genet. 2021;58(11), pp. 760-766

Published in the British Journal of Cancer
Rabbie R, Ferguson P, Wong K, Couturier DL, Moran U, Turner C, et al.
The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence.
Br J Cancer. 2021 Jan;124(1):156-160. doi: 10.1038/s41416-020-01090-2. Epub 2020 Oct 7.
PMID: 33024263 Free PMC article.

Published in Frontiers in Genetics
Simonin-Wilmer I, Orozco-del-Pino P, Bishop DT, Iles MM, Robles-Espinoza CD.
An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations.
Front Genet. 2021 Nov 5;12, 703901. https://doi.org/10.3389/fgene.2021.703901

Published in Cancers (Basel)
Spagnolo F, Dalmasso B, Tanda E, Potrony M, Puig S, van Doorn R, et al.
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.
Cancers. 2021 May 18;13(10):2440. doi: 10.3390/cancers13102440. PMID: 34069952; PMCID: PMC8157545.

Published in the American Journal of Medical Genetics
Xu, M., Mehl, L., Zhang, T., Thakur, R., Sowards, H., Myers, T., et al.
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Am J Hum Genet. 2021;108(9), 1611–1630. https://doi.org/10.1016/j.ajhg.2021.07.002

Published in Frontiers in Reproductive Health
Yang F, Mortlock S, MacGregor S, Iles MM, Landi MT, Shi J, et al.
Genetic Relationship Between Endometriosis and Melanoma.
Front Reprod Health. 2021 July 07;3:711123. doi: 10.3389/frph.2021.711123

Published in the American Journal of Medical Genetics
Zhang, T., Choi, J., Dilshat, R., Einarsdóttir, B. Ó., Kovacs, M. A., Xu, M., et al.
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms.
Am J Hum Genet. 2021;108(9), 1631–1646. https://doi.org/10.1016/j.ajhg.2021.06.018

2020

Published in Carcinogenesis
Avitabile M, Succoio M, Testori A, Cardinale A, Vaksman Z, Lasorsa VA, et al.
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Carcinogenesis. 2020;41(3), pp. 284-295

Published in Nature Communications
Choi J, Zhang T, Vu A, Ablain J, Makowski MM, Colli LM, et al.
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.
Nat Commun. 2020;11(1), 2718. https://doi.org/10.1038/s41467-020-16590-1

Published in Acta Neuropathologica
Dube U, Ibanez L, Budde JP, Benitez BA, Davis AA, Harari O, et al.
Overlapping genetic architecture between Parkinson disease and melanoma.
Acta Neuropathol. 2020;139(2), pp. 347-364.

Published in the International Journal of Epidemiology
Dusingize JC, Olsen CM, An J, Pandeya N, Law MH, Thompson BS, et al.
Body mass index and height and risk of cutaneous melanoma: Mendelian randomization analyses.
Int J Epidemiol. 2020;49(4), pp. 1236-1245

Published in the Journal of Medical Genetics
Helgadottir H, Ghiorzo P, van Doorn R, Puig S, Levin M, Kefford R, et al.
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
J Med Genet. 2020 May;57(5):316-321. doi: 10.1136/jmedgenet-2018-105610. Epub 2018 Oct 5. PMID: 30291219; PMCID: PMC7231460.

Published in Nature Genetics
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, et al.
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Nat Genet. 2020;52(5), 494–504. https://doi.org/10.1038/s41588-020-0611-8

Published in Human Molecular Genetics
Law MH, Aoude LG, Duffy DL, Long GV, Johansson PA, Pritchard AL, et al.
Multiplex melanoma families are enriched for polygenic risk.
Hum Mol Genet. 2020;29(17), 2976–2985. https://doi.org/10.1093/hmg/ddaa156

Published in the British Journal of Dermatology
Liyanage UE, Law MH, Melanoma Meta-analysis Consortium, Barrett JH, Iles MM, MacGregor S.
Is there a causal relationship between vitamin D and melanoma risk?: A Mendelian randomization study.
Br J Dermatol. 2020;182(1), pp. 97-103.

Published in Human Molecular Genetics
Mangantig E, MacGregor S, Iles MM, Scolyer RA, Cust AE, Hayward NK, et al.
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.
Hum Mol Genet. 2020;29(21), pp. 3578-3587

Published in the Journal of Clinical Oncology
Maurichi A, Miceli R, Eriksson H, Newton-Bishop J, Nsengimana J, Chan M, et al.
Factors Affecting Sentinel Node Metastasis in Thin (T1) Cutaneous Melanomas: Development and External Validation of a Predictive Nomogram.
J Clin Oncol. 2020 May 10;38(14):1591-1601. doi: 10.1200/JCO.19.01902. Epub 2020 Mar 13.
PMID: 32167862 Free PMC article.

Published in the British Journal of Dermatology
Olsen CM, Pandeya N, Law MH, MacGregor S, Iles MM, Thompson BS, et al.
Does polygenic risk influence associations between sun exposure and melanoma?: A prospective cohort analysis.
Br J Dermatol. 2020;183(2), pp. 303-310

Published in the Journal of the American Academy of Dermatology
Sargen MR, Calista D, Elder DE, Massi D, Chu E, Potrony M, et al.
Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.
J Am Acad Dermatol. 2020;83(3), 860–869. https://doi.org/10.1016/j.jaad.2020.03.100

Published in Nature Communications
Zhang YD, Hurson AN, Zhang H, Choudhury PP, Easton DF, Milne RL, et al.
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.
Nat Commun. 2020 Jul 3;11(1):3353. doi: 10.1038/s41467-020-16483-3. PMID: 32620889

2019

Published in the Journal of the European Academy of Dermatology and Venereology
Cust AE, Drummond M, Bishop DT, Northwood EL, Azizi L, Schmid H, et al.
Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure.
J Eur Acad Dermatol Venereol. 2019 May 13; 33:1874-85. doi: 10.1111/jdv.15680. PMCID: PMC6800761.

Published in Nature Communications
Duffy DL, Zhu G, Li X, Sanna M, Iles MM, Jacobs LC, et al.
Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
Nat Commun. 2019;299(10). https://doi.org/10.1038/s41467-018-08078-w

Published in Melanoma Research
Johansson, P. A., Nathan, V., Bourke, L. M., Palmer, J. M., Zhang, T., Symmons, J., et al.
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Melanoma Res. 2019;29(5), 483–490. https://doi.org/10.1097/CMR.0000000000000613

Published in Pigment Cell & Melanoma Research
Nathan, V., Johansson, P. A., Palmer, J. M., Howlie, M., Hamilton, H. R., Wadt, K., et al.
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
PCMR. 2019;32(6), 854–863. https://doi.org/10.1111/pcmr.12804

Published in the Journal of the European Academy of Dermatology and Venereology
Ntritsos G, Dimou N, Kypreou K, Stefanaki I, Loizidou MA, Hadjisavvas A, et al.
Assessment of melanoma candidate genes in a meta‐analysis of 16 534 melanoma cases.
Journal Eur Acad of Dermatol Venereol. 2019;33(10), pp. e369-e370

Published in the Journal of the American Academy of Dermatology
Taylor NJ, Mitra N, Qian L, Avril M-F, Bishop DT, Bressac-de Paillerets B, et al.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
J Am Acad Dermatol. 2019 Feb 4;81:386-94. pii: S0190-9622(19)30190-2. doi: 10.1016/j.jaad.2019.01.079. PMCID: PMC6634996.

Published in JAMA Dermatology
Wong K, Robles-Espinoza CD, Rodriguez D, Rudat SS, Puig S, Potrony M, et al.
Association of the POT1 Germline Missense Variant p.I78T with Familial Melanoma.
JAMA Dermatol. 2019 May 1;155(5):604-609.

Published in BioRxiv
Zhang Y, Wilcox AN, Zhang H, Choudhury PP, Easton DF, Milne RL, et al.
Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers.
Preprint – arXiv. 2019.

2018

Published in the Journal of Investigative Dermatology
Cust AE, Drummond M, Kanetsky PA, Australian Melanoma Family Study Investigators, Leeds Case-Control Study Investigators, Goldstein AM, et al.
Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.
J Invest Dermatol. 2018;138(12), 2617–2624. https://doi.org/10.1016/j.jid.2018.05.023

Published in Human Molecular Genetics
Gu F, Chen T H, Pfeiffer R M, Fargnoli M C, Calista D, Ghiorzo P, et al.
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Hum Mol Genet. 2018;27(23), 4145–4156. https://doi.org/10.1093/hmg/ddy282

Published in the Journal of Medical Genetics
Potjer TP, Helgadottir H, Leenheer M, van der Stoep N, Gruis NA, Höiom V, et al.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
J Med Genet. 2018 Oct;55(10):661-668. doi: 10.1136/jmedgenet-2017-105205. Epub 2018 Apr 16. PMID: 29661971.

Published in the Journal of the National Cancer Institute
Walpole, S., Pritchard, A. L., Cebulla, C. M., Pilarski, R., Stautberg, M., Davidorf, F. H., et al.
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
J Natl Cancer Inst. 2018;110(12), 1328–1341. https://doi.org/10.1093/jnci/djy171

Published in Genome Research
Zhang T, Choi J, Kovacs M A, Shi J, Xu M, NISC Comparative Sequencing Program, et al.
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
Genome Res. 2018;28(11), 1621–1635. https://doi.org/10.1101/gr.233304.117

2017

Published in the Journal of Investigative Dermatology
Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, et al.
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
J Invest Dermatol. 2017 Dec;137 (12):2606-2612

2015

Published in the Journal of the National Cancer Institute
Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, et al.
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.
J Natl Cancer Inst. 2015 Feb;107(2). PubMed PMID: 25505254.

Published in the International Journal of Cancer
Barrett JH, Taylor JC, Bright C, Harland M, Dunning AM, Akslen LA, et al.
Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.
Int J Cancer. 2015 Mar 15;136(6):1351-60. PubMed PMID: 25077817. Pubmed Central PMCID: 4328144.

Published in Cancer Epidemiology, Biomarkers & Prevention
Davies JR, Chang YM, Bishop DT, Armstrong BK, Bataille V, Bergman W, et al.
Development and validation of a melanoma risk score based on pooled data from 16 case-control studies.
Cancer Epidemiol Biomarkers Prev. 2015 May;24(5):817-24. PubMed PMID: 25713022.

Published in the Journal of Investigative Dermatology
Gao L, van den Hurk K, Nsengimana J, Laye JP, van den Oord JJ, Beck S, et al.
Prognostic Significance of Promoter Hypermethylation and Diminished Gene Expression of SYNPO2 in Melanoma.
J Invest Dermatol. 2015 Apr 28. PubMed PMID: 25918983.

Published in Nature Genetics
Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, et al.
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Nat Genet. 2015 Sep;47(9):987-995.

Published in Oncotarget
Nsengimana J, Laye J, Filia A, Walker C, Jewell R, Van den Oord JJ, et al.
Independent replication of a melanoma subtype gene signature and evaluation of its prognostic value and biological correlates in a population cohort.
Oncotarget. 2015 Mar 12. PubMed PMID: 25871393.

Published in the Journal of the American Academy of Dermatology
Sargen MR, Kanetsky PA, Newton-Bishop J, Hayward NK, Mann GJ, Gruis NA, et al.
Histologic features of melanoma associated with CDKN2A genotype.
J Am Acad Dermatol. 2015 Mar;72(3):496-507 e7. PubMed PMID: 25592620. Pubmed Central PMCID: 4333073.

Published in the International Journal of Cancer
Tuominen R, Jewell R, van den Oord JJ, Wolter P, Stierner U, Lindholm C, et al.
MGMT promoter methylation is associated with temozolomide response and prolonged progression-free survival in disseminated cutaneous melanoma.
Int J Cancer. 2015 Jun 15;136(12):2844-53. PubMed PMID: 25400033.

2014

Published in Hereditary Cancer in Clinical Practice
Harland M, Cust AE, Badenas C, Chang YM, Holland EA, Aguilera P, et al.
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Hered Cancer Clin Pract. 2014;12(1):20. PubMed PMID: 25780468. Pubmed Central PMCID: 4361137.

Published in the Journal of the National Cancer Institute
Iles MM, Bishop DT, Taylor JC, Hayward NK, Brossard M, Cust AE, et al.
The effect on melanoma risk of genes previously associated with telomere length.
J Natl Cancer Inst. 2014 Oct;106(10). PubMed PMID: 25231748.

Published in Nature Genetics
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, et al.
POT1 loss-of-function variants predispose to familial melanoma.
Nat Genet. 2014 Mar 30. PubMed PMID: 24686849.

Published in the Journal of Investigative Dermatology
Staaf J, Harbst K, Lauss M, Ringner M, Masback A, Howlin J, et al.
Primary melanoma tumors from CDKN2A mutation carriers do not belong to a distinct molecular subclass.
J Invest Dermatol. 2014 Dec;134(12):3000-3. PubMed PMID: 24999598.

Published in the Journal of Investigative Dermatology
Zebary A, Omholt K, van Doorn R, Ghiorzo P, Harbst K, Hertzman Johansson C, et al.
Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study.
J Invest Dermatol. 2014 Jan;134(1):287-90. PubMed PMID: 23771122.

2013

Published in BMC Cancer
Cust AE, Goumas C, Vuong K, Davies JR, Barrett JH, Holland EA, et al.
MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study.
BMC Cancer. 2013 Sep 4;13(1):406. PubMed PMID: 24134749. Pubmed Central PMCID: 3766240.

Published in Pigment Cell & Melanoma Research
Davies JR, Field S, Randerson-Moor J, Harland M, Kumar R, Anic GM, et al.
An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study.
Pigment Cell Melanoma Res. 2013 Nov 12. PubMed PMID: 24219834.

Published in Pigment Cell & Melanoma Research
Ogbah Z, Badenas C, Harland M, Puig-Butille JA, Elliot F, Bonifaci N, et al.
Evaluation of PAX3 genetic variants and nevus number.
Pigment Cell Melanoma Res. 2013 Sep;26(5):666-76. PubMed PMID: 23751107.

Published in Nature Genetics
Iles MM, Law MH, Stacey SN, Han J, Fang S, Pfeiffer R, et al.
A variant in FTO shows association with melanoma risk not due to BMI.
Nat Genet. 2013 Apr;45(4):428-32, 32e1. PubMed PMID: 23455637. Pubmed Central PMCID: 3640814.

2012

Published in the Archives of Dermatology
Kasparian NA, Bränström R, Chang Y, et al.
Skin Examination Behavior: The Role of Melanoma History, Skin Type, Psychosocial Factors, and Region of Residence in Determining Clinical and Self-conducted Skin Examination.
Arch Dermatol. 2012;148(10):1142–1151. doi:10.1001/archdermatol.2012.1817
This is the third paper to be published based on GenoMEL’s health psychology studies. It reports further findings from GenoMEL’s health psychology questionnaires.

2011

Published in Nature Genetics
Barrett, J., Iles, M., Harland, M. et al.
Genome-wide association study identifies three new melanoma susceptibility loci.
Nat Genet 43, 1108–1113 (2011). https://doi.org/10.1038/ng.959
This high-profile paper reports important genetic findings from the Network of Excellence project. Related press release: http://www.leeds.ac.uk/news/article/2527/three_gene_faults_linked_to_melanoma.

Published in PLoS ONE
Schoof N, Iles MM, Bishop DT, Newton-Bishop JA, Barrett JH, consortium G.
Pathway-Based Analysis of a Melanoma Genome-Wide Association Study: Analysis of Genes Related to Tumour-Immunosuppression.
PLoS ONE 6(12): e29451. https://doi.org/10.1371/journal.pone.0029451
This paper reports one of the first attempts to replicate a pathway-level association.

2009

Published in the International Journal of Cancer
Chang YM, Newton-Bishop JA, Bishop DT, Armstrong BK, Bataille V, Bergman W, et al.
A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes.
Int J Cancer. 2009 Jan 15;124(2):420-8.

Published in the British Journal of Dermatology
Cuéllar F, Puig S, Kolm I, Puig-Butille J, Zaballos P, Martí-Laborda R, Badenas C, Malvehy J.
Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.
Br J Dermatol. 2009 Jan;160(1):48-53.

Published in the International Journal of Cancer
Olsen CM, Zens MS, Stukel TA, Sacerdote C, Chang YM, Armstrong BK, et al.
Nevus density and melanoma risk in women: a pooled analysis to test the divergent pathway hypothesis.
Int J Cancer. 2009 Feb 15;124(4):937-44.

Published in the European Journal of Cancer
Galore-Haskel G, Azizi E, Mohamdi H, Scope A, Chaudru V, Laitman Y, Barak F, Pavlotsky F, Demenais F, Friedman E.
MC1R variant alleles and malignant melanoma risk in Israel.
Eur J Cancer. 2009 Mar 5. [Epub ahead of print]

Published in the Journal of Medical Ethics
Affleck PG
Is it ethical to deny genetic research participants individualised results?
J Med Ethics. 2009 Apr;35(4):209-13.

Published in the International Journal of Epidemiology
Chang YM, Barrett JH, Bishop DT, Armstrong BK, Bataille V, Bergman W, et al.
Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls.
Int J Epidemiol. 2009 Jun;38(3):814-30.

Published in the European Journal of Cancer
Randerson-Moor JA, Taylor JC, Elliott F, Chang YM, Beswick S, Kukalizch K, et al.
Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data.
Eur J Cancer. 2009 Jul 15. Epub ahead of print.

Published in Nature Genetics
Falchi M, Bataille V, Hayward NK, Duffy DL, Bishop JA, Pastinen T, et al.
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
Nat Genet. 2009 Aug;41(8):915-9. Epub 2009 Jul 5.

Published in Nature Genetics
Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, et al.
Genome-wide association study identifies three loci associated with melanoma risk.
Nat Genet. 2009 Aug;41(8):920-5.

2008

Published in the International Journal of Cancer
Chang YM, Newton-Bishop JA, Bishop DT, Armstrong BK, Bataille V, Bergman W, et al.
A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes.
Int J Cancer. 2008 Sep 12. [Epub ahead of print]

Published in the European Journal of Cancer
Beswick S, Affleck P, Elliott F, Gerry E, Boon A, Bale L, et al.
Environmental risk factors for relapse of melanoma.
Eur J Cancer. 2008 Aug;44(12):1717-25.

Published in the Journal of Investigative Dermatology
Cook AL, Chen W, Thurber AE, Smit DJ, Smith AG, Bladen TG, et al.
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci.
J Invest Dermatol. 2008 Jul 24

Published in brief communications, Nature Genetics
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, et al.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Nat Genet. 2008 Jul;40(7):838-40.

Published in Cancer Epidemiology Biomarkers Prevention
Kerstann KF, Bradford PT, Steighner R, Calista D, Fargnoli MC, Peris K, et al.
No evidence for linkage with melanoma in Italian melanoma-prone families.
Cancer Epidemiol Biomarkers Prev. 2008 Jul;1

Published in the European Journal of Cancer
Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, et al.
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Eur J Cancer. 2008 Jun;44(9):1269-1274.

Published in the Journal of the National Cancer Institute
Freedberg DE, Rigas SH, Russak J, Gai W, Kaplow M, Osman I, et al.
Frequent p16-independent inactivation of p14ARF in human melanoma.
J Natl Cancer Inst. 2008 Jun 4;100(11):784-95.

2007

Published in the Journal Lancet Oncology
Bishop, J. N., Harland, M., Randerson-Moor, J., and Bishop, D. T.
Management of familial melanoma.
Lancet Oncol. 2007;8(1), 46-54.

Published in the Journal of Investigative Dermatology
Bishop, J. A., Taylor, T., Potts, H. W., Elliott, F., Pinney, E., Barrett, J. H., et al.
Sun-protective behaviors in families at increased risk of melanoma.
J Invest Dermatol. 2007;127(6), 1343-50.

Published in the Journal of Medical Genetics
Goldstein, A. M., Chan, M., Harland, M., Hayward, N. K., Demenais, F., Bishop, D. T., et al.
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
J Med Genet. 2007;44(2), 99-106.

Published in Melanoma Research
Pjanova, D., Engele, L., Randerson-Moor, J. A., Harland, M., Bishop, D. T., Newton Bishop, J. A., Taylor, C., et al.
CDKN2A and CDK4 variants in Latvian melanoma patients: analysis of a clinic-based population.
Melanoma Res. 17(3), 185-91.

Published in Epidemiology
Seminara, D., Khoury, M. J., O’Brien, T. R., Manolio, T., Gwinn, M. L., Little, J., et al.
The emergence of networks in human genome epidemiology: challenges and opportunities. Epidemiology 2007;18(1), 1-8. 2007

Published in the International Journal of Cancer
Goldstein AM, Chaudru V, Ghiorzo P, Badenas C, Malvehy J, Pastorino L, et al.
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
Int J Cancer. 2007 Aug 15;121(4):825-31

Published in Genes, Chromosomes & Cancer
Lang J, Hayward N, Goldgar D, Tsao H, Hogg D, Palmer J, et al.
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
Genes Chromosomes Cancer. 2007 Mar;46(3):277-87.

Published in the Journal of Medical Genetics
Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, et al.
Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents.
J Med Genet. 2007 Feb;44(2):99-106.

2006

Published in Human Molecular Genetics
Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, et al.
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Hum Mol Genet. 2006 Sep 15;15(18):2682-9.

Published in Cancer Research
Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, et al.
Assessment of high-risk melanoma susceptibility genes and their associations with pancreatic cancer, neural system tumors, and uveal melanoma: A Melanoma Genetics Consortium (GenoMEL) study.
Cancer Res. 2006; 66(20): 9818-28

Published in Acta Universitatis Latviensis
Pjanova D, Heisele O, Engele L, Randerson-Moor JA, Kukalizch K, Bishop T, et al.
Analysis of Latvian familial melanoma patients for 9p21 germline deletions by multiplex ligation-dependent probe amplification approach.
Acta Universitatis Latviensis, 2006 Nov.

2005

Published in Genes, Chromosomes & Cancer
Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA.
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
Genes Chromosomes Cancer. 2005 Sep;44(1):10-8.

Published in Oncogene
Harland M, Taylor CF, Chambers PA, Kukalizch K, Randerson-Moor JA, Gruis NA, et al.
A mutation hotspot at the p14ARF splice site.
Oncogene. 2005 Jun 30;24(28):4604-8.

Published in Genes, Chromosomes & Cancer
Harland M, Taylor CF, Bass S, Churchman M, Randerson-Moor JA, Holland EA, et al.
Intronic sequence variants of the CDKN2A gene in melanoma pedigrees.
Genes Chromosomes Cancer. 2005 Jun;43(2):128-36.

2003

Published in American Journal of Human Genetics
Gillanders E, Hank Juo SH, Holland EA, Jones M, Nancarrow D, Freas-Lutz D, et al.
Localization of a novel melanoma susceptibility locus to 1p22.
Am J Hum Genet. 73(2): 301-13.

Published in Human Mutation
Fung DC, Holland EA, Becker TM, Hayward NK, Bressac-de Paillerets B, Mann GJ.
eMelanoBase: an online locus-specific variant database for familial melanoma.
Hum Mutat. 21(1): 2-7, 2003

2002

Published in the Journal of the National Cancer Institute
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, et al.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst. 94(12): 894-903.

Published in Lancer Oncology
Kefford R, Bishop JN, Tucker M, Bressac-de Paillerets B, Bianchi-Scarra G, Bergman W, et al.
Genetic testing for melanoma
Lancet Oncol. 3(11): 653-4.

2000

Published in Genes, Chromosomes & Cancer
Harland M, Holland EA, Ghiorzo P, Mantelli M, Bianchi-Scarra G, Goldstein AM, et al.
Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer. 2000;28(1): 45-57, 2000

1999

Published in the Journal of Clinical Oncology
Kefford RF, Newton Bishop JA, Bergman W, Tucker MA.
Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium.
J Clin Oncol. 1999;17: 10, 1999.

Published in the British Journal of Cancer
Newton Bishop JA, Harland M, Bennett DC, Bataille V, Goldstein AM, Tucker MA, et al.
Mutation testing in melanoma families: INK4A, CDK4 and INK4D.
Br J Cancer. 1999 Apr;80(1-2):295-300.

Consortium Information

GenoMEL Publications

GenoMEL publications