CHEK2*1100delC and Risk of Malignant Melanoma: Danish and German Studies and Meta-Analysis

Maren Weischer; Ida M Heerfordt; Stig E Bojesen; Thomas Eigentler; Claus Garbe; Martin Röcken; Lisbet Rosenkrantz Hölmich; Henrik Schmidt; Helle Klyver; Lars Bastholt; Børge G Nordestgaard; Ida M. Heerfordt

doi:10.1038/jid.2011.303

CHEK2*1100delC and Risk of Malignant Melanoma: Danish and German Studies and Meta-Analysis

Maren Weischer, Ida M Heerfordt, Stig E Bojesen, Thomas Eigentler, Claus Garbe, Martin Röcken, Lisbet Rosenkrantz Hölmich, Henrik Schmidt, Helle Klyver, Lars Bastholt, Børge G Nordestgaard, Ida M. Heerfordt

14 Citations (Scopus)

Abstract

It is possible that reduced function of DNA repair and cell-cycle control genes increases the individual susceptibility to malignant melanoma. As CHEK2 is a cell-cycle master controller, we tested the hypothesis that heterozygosity for the frameshift alteration CHEK2^*1100delC is associated with increased risk of malignant melanoma. First, we performed case-control studies of 1,152 Danish and 752 German individuals with malignant melanoma compared with 9,142 Danish and 3,718 German controls. Second, we performed a meta-analysis of CHEK2^*1100delC and malignant melanoma, involving 2,619 cases and 17,481 controls. Third, we examined the risk of malignant melanoma associated with CHEK2^*1100delC heterozygosity in an analysis stratified for sun exposure, as well as for subtype and location on the body. The odds ratios for malignant melanoma for CHEK2^* 1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. In a meta-analysis, the odds ratio of malignant melanoma for CHEK2^*1100delC heterozygotes compared with that for noncarriers was 1.81 (95% CI, 1.07-3.05). Stratifications did not alter these results. CHEK2^*1100delC heterozygotes have a twofold risk of malignant melanoma compared with noncarriers.

Original language	English
Journal	Journal of Investigative Dermatology
Volume	132
Pages (from-to)	299–303
ISSN	0022-202X
DOIs	https://doi.org/10.1038/jid.2011.303
Publication status	Published - Feb 2012

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Weischer, M., Heerfordt, I. M., Bojesen, S. E., Eigentler, T., Garbe, C., Röcken, M., Hölmich, L. R., Schmidt, H., Klyver, H., Bastholt, L., Nordestgaard, B. G., & Heerfordt, I. M. (2012). CHEK2*1100delC and Risk of Malignant Melanoma: Danish and German Studies and Meta-Analysis. Journal of Investigative Dermatology, 132, 299–303. https://doi.org/10.1038/jid.2011.303

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abstract = "It is possible that reduced function of DNA repair and cell-cycle control genes increases the individual susceptibility to malignant melanoma. As CHEK2 is a cell-cycle master controller, we tested the hypothesis that heterozygosity for the frameshift alteration CHEK2*1100delC is associated with increased risk of malignant melanoma. First, we performed case-control studies of 1,152 Danish and 752 German individuals with malignant melanoma compared with 9,142 Danish and 3,718 German controls. Second, we performed a meta-analysis of CHEK2*1100delC and malignant melanoma, involving 2,619 cases and 17,481 controls. Third, we examined the risk of malignant melanoma associated with CHEK2*1100delC heterozygosity in an analysis stratified for sun exposure, as well as for subtype and location on the body. The odds ratios for malignant melanoma for CHEK2* 1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. In a meta-analysis, the odds ratio of malignant melanoma for CHEK2*1100delC heterozygotes compared with that for noncarriers was 1.81 (95% CI, 1.07-3.05). Stratifications did not alter these results. CHEK2*1100delC heterozygotes have a twofold risk of malignant melanoma compared with noncarriers.",

author = "Maren Weischer and Heerfordt, {Ida M} and Bojesen, {Stig E} and Thomas Eigentler and Claus Garbe and Martin R{\"o}cken and H{\"o}lmich, {Lisbet Rosenkrantz} and Henrik Schmidt and Helle Klyver and Lars Bastholt and Nordestgaard, {B{\o}rge G} and Heerfordt, {Ida M.}",

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AU - Garbe, Claus

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AU - Hölmich, Lisbet Rosenkrantz

AU - Schmidt, Henrik

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AU - Bastholt, Lars

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AB - It is possible that reduced function of DNA repair and cell-cycle control genes increases the individual susceptibility to malignant melanoma. As CHEK2 is a cell-cycle master controller, we tested the hypothesis that heterozygosity for the frameshift alteration CHEK2*1100delC is associated with increased risk of malignant melanoma. First, we performed case-control studies of 1,152 Danish and 752 German individuals with malignant melanoma compared with 9,142 Danish and 3,718 German controls. Second, we performed a meta-analysis of CHEK2*1100delC and malignant melanoma, involving 2,619 cases and 17,481 controls. Third, we examined the risk of malignant melanoma associated with CHEK2*1100delC heterozygosity in an analysis stratified for sun exposure, as well as for subtype and location on the body. The odds ratios for malignant melanoma for CHEK2* 1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. In a meta-analysis, the odds ratio of malignant melanoma for CHEK2*1100delC heterozygotes compared with that for noncarriers was 1.81 (95% CI, 1.07-3.05). Stratifications did not alter these results. CHEK2*1100delC heterozygotes have a twofold risk of malignant melanoma compared with noncarriers.

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JO - Journal of Investigative Dermatology

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ER -

CHEK2*1100delC and Risk of Malignant Melanoma: Danish and German Studies and Meta-Analysis

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