BioGenoMEL

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Acknowledgements

SCaRF

We are very grateful to the Skin Cancer Research Fund (SCaRF) for helping to fund this website and the management of BioGenoMEL.

WUN

We are also grateful to the Worldwide Universities Network (WUN) Leeds Fund for International Research Collaborations (FIRC). We have received a WUN FIRC award from the University of Leeds to support meetings, scientific exchanges and the development of this website.

Yorkshire Cancer Research

We are also grateful to Yorkshire Cancer Research for a pump prime award entitled, 'BioGenoMEL - understanding the genetic and environmental modifiers of survival for melanoma patients'. This award supports the integration of data and the construction of a cancer analysis database.

Page updated 5/1/12.

This site was created by NKD Ltd

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.

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

Physician Information References
1. Newton, J.A., V. Bataille, K. Griffiths, et al.,: How common is the atypical mole syndrome phenotype in apparently sporadic melanoma?
J Am Acad Dermatol, 1993. 29: p. 989-996.
http://www.ncbi.nlm.nih.gov/pubmed/8245266?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/9013481?dopt=Abstract
3. Aitken, J.F., D.L. Duffy, A. Green, et al.,: Heterogeneity of melanoma risk in families of melanoma patients.
American Journal of Epidemiology, 1994. 140(11): p. 961-973.
http://www.ncbi.nlm.nih.gov/pubmed/7985658?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/7756125?dopt=Abstract
5. Traboulsi, E.I., L.E. Zimmerman, and H.J. Manz,: Cutaneous Malignant Melanoma in Survivors of Heritable Retinoblastoma.
Arch Ophthalmology, 1988. 106: p. 1059-1061.
http://www.ncbi.nlm.nih.gov/pubmed/3041943?dopt=Abstract
6. McKusick, V.,: Online Mendelian Inheritance in Man.
2002.
http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim/dd>
7. Li, F.P. and J.F. Fraumeni Jr,: Soft-Tissue Sarcomas, Breast Cancer, and other Neoplasms. A Familial Syndrome? Ann.
Intern. Med., 1969. 71: p. 747-752.
http://www.ncbi.nlm.nih.gov/pubmed/5360287?dopt=Abstract
8. Santibanez-Koref, M.F., J.M. Birch, A.L. Hartley, et al.,: p53 germline mutations in Li-Fraumeni syndrome.
Lancet, 1991. 338: p. 1490-1491.
http://www.ncbi.nlm.nih.gov/pubmed/1683921?dopt=Abstract
9. Travis, L.B., R.E. Curtis, H. Storm, et al.,: Risk of second malignant neoplasms among long-term survivors of testicular cancer.
J Natl Cancer Inst, 1997. 89(19): p. 1429-39.
http://www.ncbi.nlm.nih.gov/pubmed/9326912?dopt=Abstract
10. Paunu, N., E. Pukkala, P. Laippala, et al.,: Cancer incidence in families with multiple glioma patients.
Int J Cancer, 2002. 97(6): p. 819-22.
http://www.ncbi.nlm.nih.gov/pubmed/11857361?dopt=Abstract
11. Hisada, M., R.J. Biggar, M.H. Greene, et al.,: Solid tumors after chronic lymphocytic leukemia.
Blood, 2001. 98(6): p. 1979-81.
http://www.ncbi.nlm.nih.gov/pubmed/11535538?dopt=Abstract
12. Harland, M, R. Meloni, N. Gruis, et al.,: Germline mutations of the CDKN2 gene in UK melanoma families, in Human Molecular Genetics.
1997. p. 2061-2067.
http://www.ncbi.nlm.nih.gov/pubmed/9328469?dopt=Abstract
13. Harland, M., E.A. Holland, P. Ghiorzo, et al.,: Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer, 2000. 28(1): p. 45-57.
http://www.ncbi.nlm.nih.gov/pubmed/10738302?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/11726555?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/10390011?dopt=Abstract
16. Bergman, W., P. Watson, J. de Jong, et al.,: Systemic cancer and the FAMMM syndrome.
British Journal of Cancer, 1990. 61: p. 932-936.
http://www.ncbi.nlm.nih.gov/pubmed/2372499?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/1886881?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/8528263?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/11136714
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.
http://www.ncbi.nlm.nih.gov/pubmed/7581459?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/11487574?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/8894704?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/10631149?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/11059748?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/11844511?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/646394?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/10620111?dopt=Abstract
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.
http://www.ncbi.nlm.nih.gov/pubmed/12072543?dopt=Abstract

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.

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ACKNOWLEDGEMENTS

Acknowledgements

Glossary

References