3 '-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity

Show full item record



Permalink

http://hdl.handle.net/10138/318289

Citation

Kondelin , J , Tuupanen , S , Gylfe , A E , Aavikko , M , Renkonen-Sinisalo , L , Järvinen , H , Bohm , J , Mecklin , J-P , Andersen , C L , Vahteristo , P , Pitkanen , E & Aaltonen , L A 2015 , ' 3 '-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity ' , Familial Cancer , vol. 14 , no. 3 , pp. 449-453 . https://doi.org/10.1007/s10689-015-9804-1

Title: 3 '-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity
Author: Kondelin, Johanna; Tuupanen, Sari; Gylfe, Alexandra E.; Aavikko, Mervi; Renkonen-Sinisalo, Laura; Järvinen, Heikki; Bohm, Jan; Mecklin, Jukka-Pekka; Andersen, Claus L.; Vahteristo, Pia; Pitkanen, Esa; Aaltonen, Lauri A.
Other contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit








Date: 2015-09
Language: eng
Number of pages: 5
Belongs to series: Familial Cancer
ISSN: 1389-9600
DOI: https://doi.org/10.1007/s10689-015-9804-1
URI: http://hdl.handle.net/10138/318289
Abstract: Approximately 15 % of colorectal cancers exhibit instability of short nucleotide repeat regions, microsatellites. These tumors display a unique clinicopathologic profile and the microsatellite instability status is increasingly used to guide clinical management as it is known to predict better prognosis as well as resistance to certain chemotherapeutics. A panel of five repeats determined by the National Cancer Institute, the Bethesda panel, is currently the standard for determining the microsatellite instability status in colorectal cancer. Recently, a quasimonomorphic mononucleotide repeat 16T/U at the 3' untranslated region of the Ewing sarcoma breakpoint region 1 gene was reported to show perfect sensitivity and specificity in detecting mismatch repair deficient colorectal, endometrial, and gastric cancers in two independent populations. To confirm this finding, we replicated the analysis in 213 microsatellite unstable colorectal cancers from two independent populations, 148 microsatellite stable colorectal cancers, and the respective normal samples by PCR and fragment analysis. The repeat showed nearly perfect sensitivity for microsatellite unstable colorectal cancer as it was altered in 212 of the 213 microsatellite unstable (99.5 %) and none of the microsatellite stable colorectal tumors. This repeat thus represents the first potential single marker for detecting microsatellite instability.
Subject: Colorectal cancer
Microsatellite unstable colorectal cancer
Microsatellite instability marker
EWSR1
INSTABILITY
PREDISPOSITION
EXPRESSION
REVEALS
3122 Cancers
3126 Surgery, anesthesiology, intensive care, radiology
1184 Genetics, developmental biology, physiology
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
Fam_cancer_Kondelin.pdf 230.0Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record