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Glossary

: GenoMEL is an international research consortium coordinated by the University of Leeds
: GenoMEL is an FP6 project and as such is funded by the European Commission
: GenoMEL also receives substantial support from the National Cancer Institute (NCI) of the US National Institutes of Health (NIH) (CA83115).

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Glossary

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.
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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Lancet, 1991. 338: p. 1490-1491.
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19. Randerson-Moor, J.A., M. Harland, S. Williams, et al.,: A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.
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20. Valverde, P., E. Healy, I. Jackson, et al.,: Variants of the melanocyte stimulating hormone receptor gene are associated with red hair and fair skin in humans.
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21. Bastiaens, M., J. ter Huurne, N. Gruis, et al.,: The melanocortin-1-receptor gene is the major freckle gene.
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22. Valverde, P., E. Healy, S. Sikkink, et al.,: The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
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24. Winsey, S.L., N.A. Haldar, H.P. Marsh, et al.,: A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
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Consortium Information References
1. Harland, M., et al.,: Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer, 2000. 28(1): p. 45-57.
2. Pollock PM, et al.,: Mutation analysis of the CDKN2A promoter in Australian melanoma families.
Genes Chromosomes Cancer. 2001 32(1):p 89-94.
3. Liu, L., et al.,: Mutation of the CDKN2A5'UTR creates an aberrant initiation codon and predisposes to melanoma.
Nature Genetics, 1999. 21: p. 1-5.
4. Harland, M., et al.,: A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.
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.,: A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.
Oncogene, 2001. 20(39): p. 5543-7.
7. Gillanders, E., et al.,: Localization of a novel melanoma susceptibility locus to 1p22.
Am J Hum Genet, 2003. 73(2): p. 301-13.
8. Bishop, D.T., et al.,: Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst, 2002. 94(12): p. 894-903.
9. Wachsmuth, R.C., et al.,: Heritability and gene-environment interactions for melanocytic nevus density examined in a U.K. adolescent twin study.
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.