uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Evaluation of Microsatellite Instability Analysis as a Diagnostic Tool to Identify Lynch Syndrome in Endometrial Cancer Patients
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
2014 (English)Independent thesis Advanced level (degree of Master (One Year)), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Hereditary endometrial cancer (EC) is a Lynch syndrome (LS) related cancer variant and 2-10% of all EC are hereditary. The aim of this study was to develop a method for analysis of microsatellite instability (MSI) as such analysis would assist in identifying potential LS patients with EC at an early state of their disease, before a possible second cancer is developed in another organ.

Twenty-six patients with adenocarcinoma in the endometrium, diagnosed at Uppsala University Hospital in Sweden between 1993 and 2012, were included in the study. Seven of these patients were also diagnosed with LS and the rest were sporadic EC. DNA was extracted from the patients’ formalin-fixed and paraffin-embedded tissues. The extracted DNA was subjected to a multiplex PCR with fluorescently labelled primers and then analysed by using capillary electrophoresis.

Of the sporadic EC, 26% was MSI-High, which correlates well with published data. Of the LS patients, 83% was MSI-High. The outcome of this project resulted in that MSI analysis is now a validated and established method used in the process of identifying potential LS among patients with EC.

Place, publisher, year, edition, pages
2014. , 20 p.
Keyword [en]
HNPCC, Hereditary, MSI, Endometrium, Tumour
National Category
Biomedical Laboratory Science/Technology
URN: urn:nbn:se:uu:diva-227772OAI: oai:DiVA.org:uu-227772DiVA: diva2:731550
Available from: 2014-09-11 Created: 2014-06-30 Last updated: 2014-09-11Bibliographically approved

Open Access in DiVA

fulltext(403 kB)381 downloads
File information
File name FULLTEXT02.pdfFile size 403 kBChecksum SHA-512
Type fulltextMimetype application/pdf

By organisation
Department of Women's and Children's Health
Biomedical Laboratory Science/Technology

Search outside of DiVA

GoogleGoogle Scholar
Total: 381 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Total: 376 hits
ReferencesLink to record
Permanent link

Direct link