排序方式: 共有3条查询结果,搜索用时 15 毫秒
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Agnes Bourillon Hui‐Han Hu Gilles Hetet Jean‐Jacques Lacapere Jocelyne André Vincent Descamps Nicole Basset‐Seguin Zighereda Ogbah Susana Puig Philippe Saiag Martine Bagot Armand Bensussan Bernard Grandchamp Nicolas Dumaz Nadem Soufir 《Pigment cell & melanoma research》2013,26(1):88-96
As loss of KIT frequently occurs in melanoma progression, we hypothesized that KIT is implicated in predisposition to melanoma (MM). Thus, we sequenced the KIT coding region in 112 familial MM cases and 143 matched controls and genotyped tag single‐nucleotide polymorphisms (SNPs) in two cohorts of melanoma patients and matched controls. Five rare KIT substitutions, all predicted possibly or probably deleterious, were identified in five patients, but none in controls [RR = 2.26 (1.26–2.26)]. Expressed in melanocyte lines, three substitutions inhibited KIT signaling. Comparison with exomes database (7020 alleles) confirmed a significant excess of rare deleterious KIT substitutions in patients. Additionally, a common SNP, rs2237028, was associated with MM risk, and 6 KIT variants were associated with nevus count. Our data strongly suggest that rare KIT substitutions predispose to melanoma and that common variants at KIT locus may also impact nevus count and melanoma risk. 相似文献
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Zighereda Ogbah Celia Badenas Mark Harland Joan A. Puig‐Butille Fay Elliot Nuria Bonifaci Elisabet Guino Julie Randerson‐Moor May Chan Mark M. Iles Daniel Glass Andrew A. Brown Cristina Carrera Isabel Kolm Veronique Bataille Timothy D. Spector Josep Malvehy Julia Newton‐Bishop Miquel A. Pujana Tim Bishop Susana Puig 《Pigment cell & melanoma research》2013,26(5):666-676
The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three‐stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single‐nucleotide polymorphisms (SNPs) in 39 candidate genes. Seven SNPs in the PAX3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from TwinsUK. Associations with high nevus number were detected for rs6754024 (P values < 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values < 0.01) in the Barcelona and the TwinsUK sets. Associations (P values < 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and TwinsUK sets. This study suggests that SNPs in PAX3 are associated with nevus number, providing support for PAX3 as a candidate nevus gene. Further studies are needed to examine the role of PAX3 in melanoma susceptibility. 相似文献
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Davies JR Randerson-Moor J Kukalizch K Harland M Kumar R Madhusudan S Nagore E Hansson J Höiom V Ghiorzo P Gruis NA Kanetsky PA Wendt J Pjanova D Puig S Saiag P Schadendorf D Soufir N Okamoto I Affleck P García-Casado Z Ogbah Z Ozola A Queirolo P Sucker A Barrett JH van Doorn R Bishop DT Newton-Bishop J 《Pigment cell & melanoma research》2012,25(3):384-394
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