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MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters

Hoiom, Veronica; Tuominen, Rainer; Kaller, Max; Linden, Diana; Ahmadian, Afshin; Mansson-Brahme, Eva; Egyhazi, Suzanne; Sjöberg, Klas LU ; Lundeberg, Joakim and Hansson, Johan (2009) In Pigment Cell & Melanoma Research 22(2). p.196-204
Abstract
The genetic background of cutaneous malignant melanoma (CMM) includes both germ line aberrations in high-penetrance genes, like CDKN2A, and allelic variation in low-penetrance genes like the melanocortin-1 receptor gene, MC1R. Red-hair colour associated MC1R alleles (RHC) have been associated with red hair, fair skin and risk of CMM. We investigated MC1R and CDKN2A variation in relation to phenotype, clinical factors and CMM risk in the Swedish population. The study cohort consisted of sporadic primary melanoma patients, familial melanoma patients and a control group. An allele-dose dependent increase in melanoma risk for carriers of variant MC1R alleles (after adjusting for phenotype), with an elevated risk among familial CMM patients,... (More)
The genetic background of cutaneous malignant melanoma (CMM) includes both germ line aberrations in high-penetrance genes, like CDKN2A, and allelic variation in low-penetrance genes like the melanocortin-1 receptor gene, MC1R. Red-hair colour associated MC1R alleles (RHC) have been associated with red hair, fair skin and risk of CMM. We investigated MC1R and CDKN2A variation in relation to phenotype, clinical factors and CMM risk in the Swedish population. The study cohort consisted of sporadic primary melanoma patients, familial melanoma patients and a control group. An allele-dose dependent increase in melanoma risk for carriers of variant MC1R alleles (after adjusting for phenotype), with an elevated risk among familial CMM patients, was observed. This elevated risk was found to be significantly associated with an increased frequency of dysplastic nevi (DN) among familial patients compared to sporadic patients. MC1R variation was found to be less frequent among acral lentiginous melanomas (ALM) and dependent on tumour localisation. No association was found between CDKN2A gene variants and general melanoma risk. Two new variants in the POMC gene were identified in red haired individuals without RHC alleles. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
phenotype, association, melanoma, MC1R, dysplastic nevi
in
Pigment Cell & Melanoma Research
volume
22
issue
2
pages
196 - 204
publisher
Wiley-Blackwell
external identifiers
  • wos:000264084200011
  • scopus:62149096757
ISSN
1755-148X
DOI
10.1111/j.1755-148X.2008.00526.x
language
English
LU publication?
yes
id
b58ef395-7003-4ab8-9429-05819bae6d18 (old id 1402490)
date added to LUP
2009-06-15 09:44:50
date last changed
2017-10-29 03:27:31
@article{b58ef395-7003-4ab8-9429-05819bae6d18,
  abstract     = {The genetic background of cutaneous malignant melanoma (CMM) includes both germ line aberrations in high-penetrance genes, like CDKN2A, and allelic variation in low-penetrance genes like the melanocortin-1 receptor gene, MC1R. Red-hair colour associated MC1R alleles (RHC) have been associated with red hair, fair skin and risk of CMM. We investigated MC1R and CDKN2A variation in relation to phenotype, clinical factors and CMM risk in the Swedish population. The study cohort consisted of sporadic primary melanoma patients, familial melanoma patients and a control group. An allele-dose dependent increase in melanoma risk for carriers of variant MC1R alleles (after adjusting for phenotype), with an elevated risk among familial CMM patients, was observed. This elevated risk was found to be significantly associated with an increased frequency of dysplastic nevi (DN) among familial patients compared to sporadic patients. MC1R variation was found to be less frequent among acral lentiginous melanomas (ALM) and dependent on tumour localisation. No association was found between CDKN2A gene variants and general melanoma risk. Two new variants in the POMC gene were identified in red haired individuals without RHC alleles.},
  author       = {Hoiom, Veronica and Tuominen, Rainer and Kaller, Max and Linden, Diana and Ahmadian, Afshin and Mansson-Brahme, Eva and Egyhazi, Suzanne and Sjöberg, Klas and Lundeberg, Joakim and Hansson, Johan},
  issn         = {1755-148X},
  keyword      = {phenotype,association,melanoma,MC1R,dysplastic nevi},
  language     = {eng},
  number       = {2},
  pages        = {196--204},
  publisher    = {Wiley-Blackwell},
  series       = {Pigment Cell & Melanoma Research},
  title        = {MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters},
  url          = {http://dx.doi.org/10.1111/j.1755-148X.2008.00526.x},
  volume       = {22},
  year         = {2009},
}