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MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.
Pigment Cell Melanoma Res 2009; 22(2):196-204PC

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.

Authors+Show Affiliations

Department of Oncology-Pathology, CCK, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. Veronica.Hoiom@ki.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19077144

Citation

Höiom, Veronica, et al. "MC1R Variation and Melanoma Risk in the Swedish Population in Relation to Clinical and Pathological Parameters." Pigment Cell & Melanoma Research, vol. 22, no. 2, 2009, pp. 196-204.
Höiom V, Tuominen R, Käller M, et al. MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. Pigment Cell Melanoma Res. 2009;22(2):196-204.
Höiom, V., Tuominen, R., Käller, M., Lindén, D., Ahmadian, A., Månsson-Brahme, E., ... Hansson, J. (2009). MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. Pigment Cell & Melanoma Research, 22(2), pp. 196-204. doi:10.1111/j.1755-148X.2008.00526.x.
Höiom V, et al. MC1R Variation and Melanoma Risk in the Swedish Population in Relation to Clinical and Pathological Parameters. Pigment Cell Melanoma Res. 2009;22(2):196-204. PubMed PMID: 19077144.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. AU - Höiom,Veronica, AU - Tuominen,Rainer, AU - Käller,Max, AU - Lindén,Diana, AU - Ahmadian,Afshin, AU - Månsson-Brahme,Eva, AU - Egyhazi,Suzanne, AU - Sjöberg,Klas, AU - Lundeberg,Joakim, AU - Hansson,Johan, Y1 - 2008/12/09/ PY - 2008/12/17/entrez PY - 2008/12/17/pubmed PY - 2009/5/27/medline SP - 196 EP - 204 JF - Pigment cell & melanoma research JO - Pigment Cell Melanoma Res VL - 22 IS - 2 N2 - 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. SN - 1755-1471 UR - https://www.unboundmedicine.com/medline/citation/19077144/MC1R_variation_and_melanoma_risk_in_the_Swedish_population_in_relation_to_clinical_and_pathological_parameters_ L2 - https://doi.org/10.1111/j.1755-148X.2008.00526.x DB - PRIME DP - Unbound Medicine ER -