Program and Aims

As a Consortium we aim to:

Find and understand genes that increase the risk of melanoma.
Determine how those genes interact with environmental factors such ultraviolet radiation.
Determine what the inheritance of those genes means in terms of melanoma risk and the risk of other cancers.
Develop web-based materials for patients and families addressed to risk estimation, risk reduction and gene testing.
Develop web-based educational resources.

1. Newton-Bishop JA et al.,

Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate, Eur J Cancer (2010),
doi:10.1016/j.ejca.2010.10.008, in press.

1. Harland, M., et al.,

Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer, 2000. 28(1): p. 45-57.

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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. 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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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. Bataille, V., R. Hiles, and J. Newton Bishop,

Retinoblastoma, melanoma and the atypical mole syndrome.
British Journal of Dermatology, 1995. 60: p. 622-626.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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. 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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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. McKusick, V.,

nline Mendelian Inheritance in Man.
2002.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM/dd>

6. Rizos, H., et al.,

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.
Oncogene, 2001. 20(39): p. 5543-7.

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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. 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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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. 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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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. 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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.

11. Hisada, M., R.J. Biggar, M.H. Greene, et al.,

Solid tumors after chronic lymphocytic leukemia.
Blood, 2001. 98(6): p. 1979-81.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids

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.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uid

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_uid

Consortium Information

Program and Aims