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PHYSICIAN
INFORMATION

This page is for healthcare professionals who want to learn more about melanoma, particularly familial melanoma.

It is crucial that melanoma should be recognised as soon as possible. The stage of diagnosis determines the patient's chances more than anything else. Increasing knowledge about the early signs and symptoms of melanoma, in the public and in healthcare workers, is therefore vital.

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

Click on the links below to view on-line presentations and other information for physicians and healthcare professionals.

 Familial melanoma 

Information for physicians

 Early Diagnosis of melanoma 

Tutorial

 Dermoscopy tutorial 

Tutorial

 Genetic counselling and testing 
 for hereditary melanoma 

Further information

 Good practice guide 

New guidelines for melanoma prevention, diagnosis and treatment.

 Links 

Useful links for medical professionals.

This site and presentations were created by NKD Ltd

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.
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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Physician Information References
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How common is the atypical mole syndrome phenotype in apparently sporadic melanoma?
J Am Acad Dermatol, 1993. 29: p. 989-996.
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2. Cutler, C., W. Foulkes, J.-S. Brunet, et al.,
Cutaneous malignant melanoma in women is uncommonly associated with a family history of melanoma in first-degree relatives: a case control study.
Melanoma Research, 1996. 6: p. 435-440.
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Heterogeneity of melanoma risk in families of melanoma patients.
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4. Bataille, V., R. Hiles, and J. Newton Bishop,
Retinoblastoma, melanoma and the atypical mole syndrome.
British Journal of Dermatology, 1995. 60: p. 622-626.
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5. Traboulsi, E.I., L.E. Zimmerman, and H.J. Manz,
Cutaneous Malignant Melanoma in Survivors of Heritable Retinoblastoma.
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nline Mendelian Inheritance in Man.
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Soft-Tissue Sarcomas, Breast Cancer, and other Neoplasms. A Familial Syndrome? Ann.
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p53 germline mutations in Li-Fraumeni syndrome.
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Risk of second malignant neoplasms among long-term survivors of testicular cancer.
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Cancer incidence in families with multiple glioma patients.
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Solid tumors after chronic lymphocytic leukemia.
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12. Harland, M, R. Meloni, N. Gruis, et al.,
Germline mutations of the CDKN2 gene in UK melanoma families, in Human Molecular Genetics.
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Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer, 2000. 28(1): p. 45-57.
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14. Harland, M., S. Mistry, D.T. Bishop, 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.
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15. Newton Bishop, J.A., M. Harland, D.C. Bennett, et al.,
Mutation testing in melanoma families: INK4A, CDK4 and INK4D.
Br J Cancer, 1999. 80(1-2): p. 295-300.
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Systemic cancer and the FAMMM syndrome.
British Journal of Cancer, 1990. 61: p. 932-936.
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17. Lynch, H.T. and R.M. Fusaro,
Pancreatic cancer and the familial atypical multiple mole melanoma (FAMMM) syndrome.
Pancreas, 1991. 6(2): p. 127-131.
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18. Zuo, L., J. Weger, Q. Yang, et al.,
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
Nature Genetics, 1996. 12(1): p. 97-99.
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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.
Hum Mol Genet, 2001. 10(1): p. 55-62.
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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.
Nature Gentics, 1995. 11: p. 328-330.
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21. Bastiaens, M., J. ter Huurne, N. Gruis, et al.,
The melanocortin-1-receptor gene is the major freckle gene.
Hum Mol Genet, 2001. 10(16): p. 1701-8.
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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.
Human Molec Genet, 1996. 5(10): p. 1663-1666.
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23. Palmer, J.S., D.L. Duffy, N.F. Box, et al.,
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
Am J Hum Genet, 2000. 66(1): p. 176-86.
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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.
Cancer Res, 2000. 60(20): p. 5612-6.
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25. Shahbazi, M., V. Pravica, N. Nasreen, et al.,
Association between functional polymorphism in EGF gene and malignant melanoma.
Lancet, 2002. 359(9304): p. 397-401.
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26. Clark, W.H., Jr., R.R. Reimer, M. Greene, et al.,
Origin of familial malignant melanomas from heritable melanocytic lesions. 'The B-K mole syndrome'.
Arch Dermatol, 1978. 114(5): p. 732-8.
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27. Newton Bishop, J., M. Harland, R. Wachsmuth, et al.,
Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.
J Invest Dermatol, 2000. 114: p. 28-33.
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28. Bishop, D.T., F. Demenais, A.M. Goldstein, et al.,
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst, 2002. 94(12): p. 894-903.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12072543
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.