Melanoma sometimes occurs in families, indictive of genetic susceptibility. Around 5% of melanoma patients report a family history in the UK [1]. 7% of Canadian patients [2] and 11% in an Australian study [3]. The reason for the observation of different rates of family clustering in countries at different latitudes is uncertain. One explanation however, may be
The Royal College of Physicians, and the British Association of Dermatologists, have prepared guidelines for melanoma prevention, diagnosis and treatment. These guidelines were last reviewed in July 2012.
A copy of this guidance can be downloaded here.
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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.
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Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
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Variants of the melanocyte stimulating hormone receptor gene are associated with red hair and fair skin in humans.
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The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
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A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
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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
