Can probability of genetic mutation be an indicator of clinical relevance?

Chien Lun Chen; Ke Hung Tsui; Chiao Yun Lin; Phei Lang Chang; Petrus Tang; Benjamin Yat-Ming Yung

doi:10.1016/j.ygeno.2007.07.006

Can probability of genetic mutation be an indicator of clinical relevance?

Chien Lun Chen, Ke Hung Tsui, Chiao Yun Lin, Phei Lang Chang, Petrus Tang, Benjamin Yat-Ming Yung

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

NPM1 gene mutation evaluated on a population basis is a valuable and realistic tool to reflect the pathophysiological relevance of cancer. In a comparison of the NPM1 cDNA of human bladder cancer with its consensus sequence, we have found that a higher NPM1 sequence identity in a population is consistent with poor tumor differentiation, advanced tumor stage, and likelihood of recurrence. These data imply that "probability" of NPM1 mutation is an indicator of status of malignancy.

Original language	English
Pages (from-to)	746-750
Number of pages	5
Journal	Genomics
Volume	90
Issue number	6
DOIs	https://doi.org/10.1016/j.ygeno.2007.07.006
Publication status	Published - Dec 2007
Externally published	Yes

Keywords

Gene identity
Genetic variations
Nucleophosmin
Population genetics
Probability of mutation

ASJC Scopus subject areas

Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.ygeno.2007.07.006

Cite this

@article{93cd3cfc04404027bf76c7a02a3ee01e,

title = "Can probability of genetic mutation be an indicator of clinical relevance?",

abstract = "NPM1 gene mutation evaluated on a population basis is a valuable and realistic tool to reflect the pathophysiological relevance of cancer. In a comparison of the NPM1 cDNA of human bladder cancer with its consensus sequence, we have found that a higher NPM1 sequence identity in a population is consistent with poor tumor differentiation, advanced tumor stage, and likelihood of recurrence. These data imply that {"}probability{"} of NPM1 mutation is an indicator of status of malignancy.",

keywords = "Gene identity, Genetic variations, Nucleophosmin, Population genetics, Probability of mutation",

author = "Chen, {Chien Lun} and Tsui, {Ke Hung} and Lin, {Chiao Yun} and Chang, {Phei Lang} and Petrus Tang and {Yat-Ming Yung}, Benjamin",

note = "Funding Information: This work was supported by Chang Gung Memorial Hospital Research Grant CMRPD150101 and National Sciences Council (ROC) Grant NSC95-2745-B-182-001-URD.",

year = "2007",

month = dec,

doi = "10.1016/j.ygeno.2007.07.006",

language = "English",

volume = "90",

pages = "746--750",

journal = "Genomics",

issn = "0888-7543",