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A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling - Journal of Human Genetics
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Familial malignant melanoma (FMM) is a hereditary tumor that is quite rare in Japan; to date, the germline CDK4 variant has scarcely been reported around the world. Thus, we report on a woman with FMM who developed salivary gland cancer, for which a germline pathogenic variant of CDK4 was incidentally identified through comprehensive genomic profiling.
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