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MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis.
Eur J Cancer 2010; 46(8):1413-20EJ

Abstract

AIM OF THE STUDY

We performed a meta-analysis to assess whether MC1R variants increase the risk of melanoma in CDKN2A mutation carriers of melanoma-prone families.

METHODS

Data from 96 CDKN2A-positive melanoma-prone families from seven independent populations of Europe, United States and Australia were included in the analysis. Summary risk estimates were calculated by random-effect models. We explored between-study heterogeneity and publication bias. Association between MC1R variants and age at diagnosis was assessed by the non-parametric Wilcoxon test.

RESULTS

CDKN2A mutation carriers with 1 MC1R variant showed a double melanoma risk as compared to CDKN2A mutation carriers without MC1R variants (Summary OR; 95%CI: 2.2; 1.1-4.5). MC1R heterozygous subjects had no significantly higher melanoma risk than wild-type subjects (1.6; 0.5-5.4) while carriers of multiple MC1R variants had a more than four-times higher melanoma risk (4.6; 1.3-16.4). Carriers of red hair colour (RHC) variants showed an increased melanoma risk with a Summary OR of 3.5 (95%CI: 1.3-9.9). CDKN2A mutation carriers with MC1R variants had a statistically significant lower median age at melanoma diagnosis than CDKN2A mutation carriers with no MC1R variants (37years versus 47years, p-value<0.0001).

CONCLUSION

MC1R variants significantly increase penetrance of CDKN2A mutations in melanoma-prone families, especially with respect to multiple MC1R variants and to RHC variants. A significant anticipation of melanoma diagnosis is observed in CDKN2A mutation carriers with MC1R variants.

Authors+Show Affiliations

Department of Dermatology, University of L'Aquila, L'Aquila, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis
Review

Language

eng

PubMed ID

20189796

Citation

Fargnoli, Maria Concetta, et al. "MC1R Variants Increase Melanoma Risk in Families With CDKN2A Mutations: a Meta-analysis." European Journal of Cancer (Oxford, England : 1990), vol. 46, no. 8, 2010, pp. 1413-20.
Fargnoli MC, Gandini S, Peris K, et al. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer. 2010;46(8):1413-20.
Fargnoli, M. C., Gandini, S., Peris, K., Maisonneuve, P., & Raimondi, S. (2010). MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. European Journal of Cancer (Oxford, England : 1990), 46(8), pp. 1413-20. doi:10.1016/j.ejca.2010.01.027.
Fargnoli MC, et al. MC1R Variants Increase Melanoma Risk in Families With CDKN2A Mutations: a Meta-analysis. Eur J Cancer. 2010;46(8):1413-20. PubMed PMID: 20189796.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. AU - Fargnoli,Maria Concetta, AU - Gandini,Sara, AU - Peris,Ketty, AU - Maisonneuve,Patrick, AU - Raimondi,Sara, Y1 - 2010/02/26/ PY - 2009/11/05/received PY - 2010/01/18/revised PY - 2010/01/20/accepted PY - 2010/3/2/entrez PY - 2010/3/2/pubmed PY - 2010/9/24/medline SP - 1413 EP - 20 JF - European journal of cancer (Oxford, England : 1990) JO - Eur. J. Cancer VL - 46 IS - 8 N2 - AIM OF THE STUDY: We performed a meta-analysis to assess whether MC1R variants increase the risk of melanoma in CDKN2A mutation carriers of melanoma-prone families. METHODS: Data from 96 CDKN2A-positive melanoma-prone families from seven independent populations of Europe, United States and Australia were included in the analysis. Summary risk estimates were calculated by random-effect models. We explored between-study heterogeneity and publication bias. Association between MC1R variants and age at diagnosis was assessed by the non-parametric Wilcoxon test. RESULTS: CDKN2A mutation carriers with 1 MC1R variant showed a double melanoma risk as compared to CDKN2A mutation carriers without MC1R variants (Summary OR; 95%CI: 2.2; 1.1-4.5). MC1R heterozygous subjects had no significantly higher melanoma risk than wild-type subjects (1.6; 0.5-5.4) while carriers of multiple MC1R variants had a more than four-times higher melanoma risk (4.6; 1.3-16.4). Carriers of red hair colour (RHC) variants showed an increased melanoma risk with a Summary OR of 3.5 (95%CI: 1.3-9.9). CDKN2A mutation carriers with MC1R variants had a statistically significant lower median age at melanoma diagnosis than CDKN2A mutation carriers with no MC1R variants (37years versus 47years, p-value<0.0001). CONCLUSION: MC1R variants significantly increase penetrance of CDKN2A mutations in melanoma-prone families, especially with respect to multiple MC1R variants and to RHC variants. A significant anticipation of melanoma diagnosis is observed in CDKN2A mutation carriers with MC1R variants. SN - 1879-0852 UR - https://www.unboundmedicine.com/medline/citation/20189796/MC1R_variants_increase_melanoma_risk_in_families_with_CDKN2A_mutations:_a_meta_analysis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0959-8049(10)00048-1 DB - PRIME DP - Unbound Medicine ER -