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Consortium Information
This non-profit consortium was established in 1997 and comprises the majority of research groups worldwide who are working on the genetics of familial melanoma.
The consortium was formed to allow better sharing of information and pooling of data. In this way, the consortium will make progress that no single group could achieve on its own.
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.
Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer, 2000. 28(1): p. 45-57.
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
Mutation analysis of the CDKN2A promoter in Australian melanoma families.
Genes Chromosomes Cancer. 2001 32(1):p 89-94.
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
Mutation of the CDKN2A5’UTR creates an aberrant initiation codon and predisposes to melanoma.
Nature Genetics, 1999. 21: p. 1-5.
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
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.
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
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.
nline Mendelian Inheritance in Man.
2002.
www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM/dd>
A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.
Oncogene, 2001. 20(39): p. 5543-7.
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
Localization of a novel melanoma susceptibility locus to 1p22.
Am J Hum Genet, 2003. 73(2): p. 301-13.
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
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst, 2002. 94(12): p. 894-903.
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
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.
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
Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.
J Invest Dermatol, 2000. 114: p. 28-33.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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