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High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing
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نویسنده
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Duberow David P. ,Brait Mariana ,Hoque Mohammad O. ,Theodorescu Dan ,Sidransky David ,Dasgupta Santanu ,Mathies Richard A.
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منبع
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journal of molecular medicine - 2016 - دوره : 94 - شماره : 9 - صفحه:1015 -1024
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چکیده
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Utilizing a polymorphism ratio sequencing platform, we performed a complete somatic mutation analysis of the mitochondrial d-loop region in 14 urothelial cell carcinomas. a total of 28 somatic mutations, all heteroplasmic, were detected in 8 of 14 individuals (57.1 %). insertion/deletion changes in unstable mono- and dinucleotide repeat segments comprise the most pervasive class of mutations (9 of 28), while two recurring single-base substitution loci were identified. seven variants, mostly insertion/deletions, represent population shifts from a heteroplasmic germline toward dominance in the tumor. in four cases, dna from matched urine samples was similarly analyzed, with all somatic variants present in associated tumors readily detectable in the bodily fluid. consistent with previous findings, mutant populations in urine were similar to those detected in tumor and in three of four cases were more prominent in urine.
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کلیدواژه
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mtDNA ,Urothelial cell carcinoma ,Polymorphism ratio sequencing ,Somatic mutation ,D-loop
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آدرس
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University of California, Department of Chemistry, USA. City College of San Francisco, Department of Chemistry, USA, Johns Hopkins University School of Medicine, Department of Otolaryngology—Head and Neck Surgery, Head and Neck Cancer Research Division, USA, Johns Hopkins University School of Medicine, Department of Otolaryngology—Head and Neck Surgery, Head and Neck Cancer Research Division, USA, University of Colorado Comprehensive Cancer Center, Department of Pharmacology, Department of Surgery (Urology), USA, Johns Hopkins University School of Medicine, Department of Otolaryngology—Head and Neck Surgery, Head and Neck Cancer Research Division, USA, The University of Texas Health Science Center at Tyler, Department of Cellular and Molecular Biology, USA, University of California, Department of Chemistry, USA
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Authors
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