The Y152X MC1R gene mutation:: occurrence in ethnically diverse Jewish malignant melanoma patients
The Y152X MC1R gene mutation:: occurrence in ethnically diverse Jewish malignant melanoma patients
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DOI：
10.1097/cmr.0b013e3280c31d81
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发表时间：
2007-04-01
影响因子：
2.2
通讯作者：
Friedman, Eitan
中科院分区：
文献类型：
--
作者：
Galore, Gilli;Azizi, Esther;Friedman, Eitan
MC1R sequence variants are associated with malignant melanoma risk, and most commonly are missense mutations. Few (n=9) truncating mutations have been described in this gene as predisposing to malignant melanoma. In this study, three Jewish individuals were found to harbor an identical truncating MC1R mutation Y152X: an Ashkenazi patient with two malignant melanomas, a non-Ashkenazi malignant melanoma patient with familial malignant melanoma and her asymptornatic mother. Both malignant melanoma patients carried additional, seemingly pathogenic MC1R variants. Haplotype analysis revealed that all three mutation carriers shared the same haplotype. This sequence variant was previously described in ethnically diverse, non-Jewish individuals and in all likelihood represents an error-prone domain that, in conjunction with other genetic and environmental factors, increases malignant melanoma risk.
