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RESULTS

Members of the consortium have produced these papers to date.

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GenoMEL is an international research consortium coordinated by the University of Leeds
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Results & published papers

Pigment Cell Melanoma Res. 2012 May;25(3):384-94.

Inherited variants in the MC1R gene and survival from cutaneous melanoma:
a BioGenoMEL study.

http://www.ncbi.nlm.nih.gov/pubmed/22325793

Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. Epub 2012 Mar 16.

Full text available for free at:http://onlinelibrary.wiley.com/doi/10.1111/pcr.2012.25.issue-3/issuetoc

 

J Invest Dermatol. 2010 Apr 1. [Epub ahead of print]

MicroRNA Expression Profiles Associated with Mutational Status and Survival in Malignant Melanoma.

Caramuta S, Egyházi S, Rodolfo M, Witten D, Hansson J, Larsson C, Lui WO.

Available at:http://www.nature.com/jid/journal/vaop/ncurrent/abs/jid201063a.html

 

Genes Chromosomes Cancer. 2010 May;49(5):425-38.

Deletion at chromosome arm 9p in relation to BRAF/NRAS mutations and prognostic significance for primary melanoma.

Conway C, Beswick S, Elliott F, Chang YM, Randerson-Moor J, Harland M, Affleck P, Marsden J, Sanders DS, Boon A, Knowles MA, Bishop DT Newton-Bishop JA

Full text available for free at: http://www3.interscience.wiley.com/journal/123275686/abstract?CRETRY=1&SRETRY=0

 

Clin Cancer Res. 2009 Nov 15;15(22):6939-46. Epub 2009 Nov 3.

Gene expression profiling of paraffin-embedded primary melanoma using the DASL assay identifies increased osteopontin expression as predictive of reduced relapse-free survival.

Conway C, Mitra A, Jewell R, Randerson-Moor J, Lobo S, Nsengimana J, Edward S, Sanders DS, Cook M, Powell B, Boon A, Elliott F, de Kort F,Knowles MA, Bishop DT, Newton-Bishop J.

Available at:http://clincancerres.aacrjournals.org/content/15/22/6939.long

 

J Clin Oncol. 2009 Nov 10;27(32):5439-44. Epub 2009 Sep 21.

Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma.

Newton-Bishop JA, Beswick S, Randerson-Moor J, Chang YM, Affleck P, Elliott F, Chan M, Leake S, Karpavicius B, Haynes S, Kukalizch K, Whitaker L, Jackson S, Gerry E, Nolan C, Bertram C, Marsden J, Elder DE, Barrett JH, Bishop DT.

Available at: http://jco.ascopubs.org/cgi/content/full/27/32/5439

 

Mutat Res. 2009 Feb 10;661(1-2):78-84. Epub 2008 Nov 27.

Single nucleotide polymorphisms in DNA repair genes XRCC1 and APEX1 in progression and survival of primary cutaneous melanoma patients.

Figl A, Scherer D, Nagore E, Bermejo JL, Dickes E, Thirumaran RK, Gast A, Hemminki K, Kumar R, Schadendorf D.

Abstract available at:http://www.ncbi.nlm.nih.gov/pubmed/19073198

 

Eur J Cancer. 2008 Aug;44(12):1717-25. Epub 2008 Jul 2.

Environmental risk factors for relapse of melanoma.

Beswick S, Affleck P, Elliott F, Gerry E, Boon A, Bale L, Nolan C, Barrett JH, Bertram C, Marsden J, Bishop DT, Newton-Bishop JA.

Full text available for free at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2583252/

 

J Invest Dermatol. 2006 Oct;126(10):2242-6. Epub 2006 May 11.

The EGF A61G polymorphism is associated with disease-free period and survival in malignant melanoma.

Okamoto I, Roka F, Krögler J, Endler G, Kaufmann S, Tockner S, Marsik C, Jilma B, Mannhalter C, Wagner O, Pehamberger H.

Full text available for free at: http://www.nature.com/jid/journal/v126/n10/abs/5700377a.html

 

J Invest Dermatol. 2005 Aug;125(2):312-7.

BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival.

Akslen LA, Angelini S, Straume O, Bachmann IM, Molven A, Hemminki K, Kumar R.

Abstract available at: http://www.ncbi.nlm.nih.gov/pubmed/16098042

 

Clin Cancer Res. 2005 Apr 15;11(8):2991-7.

Biallelic deletions in INK4 in cutaneous melanoma are common and associated with decreased survival.

Grafström E, Egyházi S, Ringborg U, Hansson J, Platz A.

Full text available for free at: http://clincancerres.aacrjournals.org/content/11/8/2991.long

 

Cancer. 2004 Nov 1;101(9):2067-78.

Invasive cutaneous malignant melanoma in Sweden, 1990-1999. A prospective, population-based study of survival and prognostic factors.

Lindholm C, Andersson R, Dufmats M, Hansson J, Ingvar C, Möller T, Sjödin H, Stierner U, Wagenius G; Swedish Melanoma Study Group.

Full text available for free at: http://www3.interscience.wiley.com/journal/109624977/abstract

 

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Glossary

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Associated
When two things are associated they are connected or joined in some way. It may be that one thing causes the other but they could be linked in some other way. For instance, if both things were caused by a separate, third thing.
Clinical geneticist
A doctor concerned with the care of people with genetic conditions.
Dermatologist
A specialist 'skin' doctor.
Freckle
A small brown patch on the skin that becomes darker following exposure to sunlight. Freckles can vary from light brown to dark brown, and are often found on the cheeks and across the bridge of the nose.
Genes
Genes are pieces of genetic 'code': they are the instructions or recipes that our bodies use for growth and repair.
GenoMEL
The Melanoma Genetics Consortium: an international, collaborative organisation researching the genetics of melanoma.
High-risk genes
Particular genes can make us more susceptible to diseases. If we have changes in them called mutations, and if the mutation significantly increase the risk of a disease (as compared to someone who does not have a mutation in the gene), it is called a high-risk gene.
IU
International Units
Melanoma
Melanoma is a form of cancer that develops from the pigment producing cells of the skin. If untreated it can spread through the body and is potentially fatal.
Microgram
A microgram (mcg) is a millionth of a gram.
Mutations
Mutations are changes or faults in our genes. Sometimes mutations can increase our chances of developing a disease.
nmol/L
nmol/L stands for nanomoles per litre. A nanomole is an extremely small unit of measurement.
Nervous system tumours
The nervous system consists of the brain, spinal cord, nerves and other structures that control our bodies. A tumour is an abnormal growth, which can be cancerous (having the potential to spread around the body) or benign (the growth remains in a single spot but may continue to grow in size).
Pancreas
The pancreas is a gland that lies behind the stomach. It produces digestive juices and controls blood sugar levels.
Risk
We are using the word risk to mean the chances of something happening. For example, if something is more likely to happen to John than to Peter then John is at greater risk than Peter.
SPF
Sun Protection Factor
UVA
UVA is a form of ultraviolet radiation. It is sometimes called long wave UV or black light.
Uveal melanoma
Uveal melanoma is a melanoma that occurs either in the coloured part of the eye (the iris) or other tissues nearby. It is a rare type of cancer.
UV Index
The UV index is a measurement of how much ultraviolet radiation is reaching a particular place at a given time. UV index forecasts are sometimes given as part of weather reports.

References

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Consortium Information References
1. Harland, M., et al.,
Mutation screening of the CDKN2A promoter in melanoma families.
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2. Pollock PM, et al.,
Mutation analysis of the CDKN2A promoter in Australian melanoma families.
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3. Liu, L., et al.,
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Nature Genetics, 1999. 21: p. 1-5.
4. Harland, M., et al.,
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Hum Mol Genet, 2001. 10(23): p. 2679-86.
5. Randerson-Moor, J.A., et al.,
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.
Hum Mol Genet, 2001. 10(1): p. 55-62.
6. Rizos, H., et al.,
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9. Wachsmuth, R.C., et al.,
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J Invest Dermatol, 2001. 117(2): p. 348-52.
10. Newton Bishop, J., et al.,
Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.
J Invest Dermatol, 2000. 114: p. 28-33.