NDLI: High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing

Content Provider	Springer Nature Link
Author	Duberow, David P. Brait, Mariana Hoque, Mohammad O. Theodorescu, Dan Sidransky, David Dasgupta, Santanu Mathies, Richard A.
Copyright Year	2016
Abstract	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. PRS accurately detects high mtDNA mutations in UCCs and their body fluids. mtDNA mutations are universally heteroplasmic and often appear at low levels. The PRS technology could be a viable approach to develop mitochondrial biomarkers.
Starting Page	1015
Ending Page	1024
Page Count	10
File Format	PDF
ISSN	09462716
Journal	Journal of Molecular Medicine
Volume Number	94
Issue Number	9
e-ISSN	14321440
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-03-31
Publisher Place	Berlin/Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	mtDNA Urothelial cell carcinoma Polymorphism ratio sequencing Somatic mutation D-loop Molecular Medicine Human Genetics Internal Medicine
Content Type	Text
Resource Type	Article
Subject	Drug Discovery Molecular Medicine Genetics (clinical)

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