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- W2076384498 abstract "We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A), a major melanoma predisposing gene, in a western-Swedish hereditary melanoma population comprising 107 patients from 68 families. Using sequence analysis and multiplex ligation-dependent probe amplification, we found a novel mutation (Asp108 Tyr), segregating with the disease in three families. This mutation has previously been detected as a somatic mutation in other cancers. We found a previously described Swedish founder mutation (ins113Arg) in one family and a large duplication encompassing the CDKN2A gene locus in another family. Moreover, a debated polymorphism (Ala148Thr) was found in nine families, in which the polymorphism did not segregate with the disease. We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A), a major melanoma predisposing gene, in a western-Swedish hereditary melanoma population comprising 107 patients from 68 families. Using sequence analysis and multiplex ligation-dependent probe amplification, we found a novel mutation (Asp108 Tyr), segregating with the disease in three families. This mutation has previously been detected as a somatic mutation in other cancers. We found a previously described Swedish founder mutation (ins113Arg) in one family and a large duplication encompassing the CDKN2A gene locus in another family. Moreover, a debated polymorphism (Ala148Thr) was found in nine families, in which the polymorphism did not segregate with the disease. cyclin-dependent kinase inhibitor 2A dysplastic nevi dysplastic nevus syndrome multiplex ligation-dependent probe amplification" @default.
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- W2076384498 date "2007-06-01" @default.
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- W2076384498 title "Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma" @default.
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- W2076384498 doi "https://doi.org/10.1038/sj.jid.5700718" @default.
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