Recent GenoMEL publications

2013-15

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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. Hereditary cancer in clinical practice. 2014;12(1):20. PubMed PMID: 25780468. Pubmed Central PMCID: 4361137.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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. 2014 Jul 31. PubMed PMID: 25077817.
  16. 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.
  17. 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.

 

 

2012

Branstrom et al. European Journal of Cancer, published online 25 June 2012.

This is the fourth paper to be published based on GenoMEL’s health psychology studies. It highlights the need for more effective communication of genetic test results.

To find out more please visit the European Journal of Cancer website. http://www.ejcancer.info/article/S0959-8049(12)00431-5/abstract

 

Kasparian et al. Archives of Dermatology, published online 16 July 2012.

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.

To find the article please visit the Archives of Dermatology website. http://archderm.jamanetwork.com/article.aspx?articleid=1216970

 

2011

Schoof et al. PLoS ONE 6(12): e29451. doi:10.1371/journal.pone.0029451

This paper reports one of the first attempts to replicate a pathway-level association.

To find the article please visit the PLoS ONE website. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0029451

 

Barrett et al. Nature Genetics, published online 9 October 2011.

This high profile paper reports important genetic findings from the Network of Excellence project. A press release of the results is available http://www.leeds.ac.uk/news/article/2527/three_gene_faults_linked_to_melanoma.

To find the article please visit the Nature Genetics website. http://www.nature.com/ng/journal/v43/n11/abs/ng.959.html