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  • Meeting abstract
  • Open Access

Fast diagnostic test for the identification of an increased genetic predisposition to colon cancer (exemplified on a DNA test for recurrent mutations of the gene MMR)

Hereditary Cancer in Clinical Practice201210 (Suppl 1) :A13

  • Published:


  • Colorectal Cancer
  • Colon Cancer
  • Lynch Syndrome
  • Mismatch Repair
  • Present Test

Hereditary nonpolyposis colorectal cancer (Lynch Syndrome, LS) is a genetic disorder, where family members are at high risk of developing cancer of the colon, endometrium, small intestine and urinary tract. The cause for LS is due to constitutional mutations in several mismatch repair genes (MMR) mainly in MLH1, MSH2 and MSH6.

The Polish population has been well characterized by a large study comprising ~1000 LS-suspected families. Most nucleotide substitutions (about 90%) were discovered mainly by DHPLC (denaturing high-performance liquid chromatography) or sequencing, whereas deletion of one or more exons (about 10% of all mutations) were detected mainly by MLPA (multiplex ligation-dependent probe amplification) [1, 2].

Over 60% families of the former study, which were affected by recurrent MMR mutations, were taken as a basis to design the following iPLEX/TaqMan test, that allows simultaneous testing of almost all recurrent mutations in only analysis [3] .

The drawback of this kind of analysis are the high costs of the machines (Sequenom), for which a reasonable cost-effectiveness is achieved only for large series of probes. Thus the approach is convenient only for high-throughput laboratories.

However the present approach is cost-effective even for testing individual patients. The present test, based on a Taqman PCR analysis, allows a fast identification of the 20 most frequent mutations of the genes MLH1 and MSH2. An analogous test for recurrent mutations of the gene APC could, in a similar way, accelerate the molecular diagnostic of predisposition to FAP.

Authors’ Affiliations

International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland


  1. Kurzawski G, et al.: Germline MSH2 and MSH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clinical Genetics 2006, 69: 40–47.PubMedView ArticleGoogle Scholar
  2. Suchy J, et al.: Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers. Clin. Genet 2006, 70: 68–70. 10.1111/j.1399-0004.2006.00630.xPubMedView ArticleGoogle Scholar
  3. Dymerska D, et al.: Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. J Mol Diag 2010, 12: 82–90. 10.2353/jmoldx.2010.090063View ArticleGoogle Scholar


© Kurzawski et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.