BioGenoMEL

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Results & published papers

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

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.
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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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