Glossary
CLOSE- 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
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- Mutation screening of the CDKN2A promoter in melanoma families.
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- Mutation analysis of the CDKN2A promoter in Australian melanoma families.
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- 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.
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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.
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- Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.
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