The Y152X MC1R gene mutation: Occurrence in ethnically diverse Jewish malignant melanoma patients Journal Article
| Authors: | Galore, G.; Azizi, E.; Scope, A.; Pavlotsky, F.; Yakobson, E.; Friedman, E. |
| Article Title: | The Y152X MC1R gene mutation: Occurrence in ethnically diverse Jewish malignant melanoma patients |
| Abstract: | 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 asymptomatic 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. © 2007 Lippincott Williams & Wilkins, Inc. |
| Keywords: | adult; clinical article; gene mutation; sequence analysis; missense mutation; mutation; case-control studies; mutation, missense; polymorphism, single nucleotide; cancer patient; reproducibility of results; melanoma; skin neoplasms; genetic variability; haplotypes; heterozygote; risk; haplotype; heterozygosity; nucleotide sequence; ethnic difference; environmental factor; jews; malignant melanoma risk; sequence variants; receptor, melanocortin, type 1; jew; mc1r gene; truncating mutation |
| Journal Title: | Melanoma Research |
| Volume: | 17 |
| Issue: | 2 |
| ISSN: | 0960-8931 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2007-04-01 |
| Start Page: | 105 |
| End Page: | 108 |
| Language: | English |
| DOI: | 10.1097/CMR.0b013e3280c31d81 |
| PUBMED: | 17496785 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 2" - "Export Date: 17 November 2011" - "CODEN: MREEE" - "Molecular Sequence Numbers: GENBANK: AF326275;" - "Source: Scopus" |
