New diagnostic test for high risk of breast cancer in Poland
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New diagnostic test for high risk of breast cancer in Poland

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Published 01 January 2011
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GorskiHereditary Cancer in Clinical Practice2011,9(Suppl 2):A3 http://www.hccpjournal.com/content/9/S2/A3
M E E T I N GA B S T R A C TOpen Access New diagnostic test for high risk of breast cancer in Poland B Gorski FromAnnual Conference on Hereditary Cancers 2009 Szczecin, Poland. 1011 December 2009
It is a primary goal in clinical cancer genetics to identify in a population the full range of mutant alleles that pre dispose to breast cancer (or to another cancer) and then to offer a rapid and inexpensive genetic assay to test for these alleles in a single setting. Many challenges are raised by this approach.. The genetic test must be accu rate, rapid and cost effective. If a diseaseassociated mutation is found, presymptomatic testing of other family members for the specific mutation is possible . In Poland the three founder mutations in BRCA1 (C61G, 4153delA, 5382insC) account for 86% of all BRCA1 and BRCA2 mutations. Mutations in BRCA2 are relatively rare in Poland and no founder BRCA2 mutations have been identified. Several other rare mutations in the BRCA1/2 genes have been found in Polish families with occurrence of hereditary breast and ovarian cancers. Application of Sequenom mutation detection platform, critically improved screening of broad Polish BRCA1/2 genes mutations spectrum. We have developed diagnos tic test focused on 25 Polish recurrent BRCA1/2 genes mutations . Mutation detection method was based on automated MALDITOF mass spectrometry in Seque nom MassArraysystem using iPLEX GOLD assay reactions that ends after a Single Base Extension.
Published: 1 June 2011
doi:10.1186/189742879S2A3 Cite this article as:Gorski:New diagnostic test for high risk of breast cancer in Poland.Hereditary Cancer in Clinical Practice20119(Suppl 2):A3.
International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
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© 2011 Gorski; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.