Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation

Eliason, M. J., Hansen, C. B., Hart, M., Porter-Gill, P., Wei Chen, Sturm, R. A., Bowen, G., Florell, S. R., Harris, R. M., Cannon-Albright, L. A., Swinyer, L. and Leachman, S. A. (2007) Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Archives of Dermatology, 143 11: 1409-1412. doi:10.1001/archderm.143.11.1409

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Author Eliason, M. J.
Hansen, C. B.
Hart, M.
Porter-Gill, P.
Wei Chen
Sturm, R. A.
Bowen, G.
Florell, S. R.
Harris, R. M.
Cannon-Albright, L. A.
Swinyer, L.
Leachman, S. A.
Title Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation
Journal name Archives of Dermatology   Check publisher's open access policy
ISSN 0003-987X
Publication date 2007-11
Sub-type Article (original research)
DOI 10.1001/archderm.143.11.1409
Open Access Status File (Publisher version)
Volume 143
Issue 11
Start page 1409
End page 1412
Total pages 4
Place of publication Chicago, USA
Publisher American Medical Association
Collection year 2008
Language eng
Subject C1
270106 Cell Development (incl. Cell Division and Apoptosis)
730108 Cancer and related disorders
Abstract Background: Recent research has shown a possible causal relationship between ionizing radiation exposure and melanoma. Individuals with mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), the major melanoma predisposition gene, have an increased susceptibility to melanoma-promoting exposures, such as UV light. We describe a patient from a familial melanoma pedigree with 7 primary melanomas on the right side of her body, the first occurring 5 years after exposure to atmospheric nuclear bomb testing in the 1950s. Observations: Physical examination revealed phototype I skin, red hair, and 26 nevi (14 on the right and 12 on the left side of her body). One nevus was larger than 5 mm, and 2 were clinically atypical. Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a red hair color variant in MC1R (melanocortin 1 receptor) (R151C). Fluorescence in situ hybridization analysis of blood, fibroblasts, and melanocytes from both upper extremities ruled out mosaicism. Conclusions: Individuals such as this patient, who has CDKN2A and MC1R mutations, are likely to be more susceptible to environmental insults. A careful review of environmental exposures in these vulnerable cases may reveal cancer-promoting agents, such as ionizing radiation, that go unnoticed in less susceptible populations.
Keyword Dermatology
Atomic-bomb Survivors
Germline Mutations
Polycythemia-vera
Risk
Mc1r
Families
Cancer
Association
Individuals
Prevalence
Q-Index Code C1
Q-Index Status Confirmed Code

 
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Created: Tue, 13 May 2008, 12:23:53 EST by Jennifer Greder on behalf of Institute for Molecular Bioscience