High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing.
High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing.
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DOI：
10.1007/s00109-016-1407-2
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发表时间：
2016-09
期刊：
影响因子：
--
通讯作者：
Mathies RA
中科院分区：
文献类型：
--
作者：
Duberow DP;Brait M;Hoque MO;Theodorescu D;Sidransky D;Dasgupta S;Mathies RA
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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DOI：
10.1158/1940-6207.capr-10-0326
发表时间：
2011-05
期刊：
Cancer prevention research (Philadelphia, Pa.)
影响因子：
--
作者：
Chatterjee A;Dasgupta S;Sidransky D
通讯作者：
Sidransky D
影响因子：
5.6
作者：
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通讯作者：
Dasgupta S
影响因子：
56.9
作者：
Ishikawa, Kaori;Takenaga, Keizo;Hayashi, Jun-Ichi
通讯作者：
Hayashi, Jun-Ichi
影响因子：
14.9
作者：
Nickerson, DA;Tobe, VO;Taylor, SL
通讯作者：
Taylor, SL
DOI：
10.1073/pnas.012608699
发表时间：
2002-01-22
影响因子：
11.1
作者：
Paegel, BM;Emrich, CA;Mathies, RA
通讯作者：
Mathies, RA