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Ryong Nam Kim Author
Subjects of specialization
Affiliation
Post-zygotic; Mosaic mutation; Breast cancer
Seoul National University Hospital, South Korea
Biography
Ryong Nam Kim had completed his PhD in a major of functional genomics and has his expertise in discovering biomarker and pharmaceutic drug candidates by applying genomics and pharmacogenomics approaches to diverse cancer types, including breast, lung and stomach cancers.
Publications
Research Article Open Access
Post-zygotic Mosaic Mutation in Normal Tissue from Breast Cancer Patient
Author(s): Ryong Nam Kim
Even though numerous previous investigations had shed fresh light on somatic driver mutations in cancer tissues, the mutation-driven malignant transformation mechanism from normal to cancerous tissues remains still mysterious. In this study, we performed whole exome analysis of paired normal and cancer samples from 12 breast cancer patients in order to elucidate the post-zygotic mosaic mutation that might predispose to breast carcinogenesis. We found a post-zygotic mosaic mutation PIK3CA p.F1002C with 2% variant allele fraction (VAF) in normal tissue, whose respective VAF in a matched breast cancer tissue, had increased by 20.6%. Such an expansion of the variant allele fraction in the matched cancer tissue may implicate the mosaic mutation in association with the causation underlying th... view more»
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