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New diagnostic test for high risk of breast cancer in Poland

It is a primary goal in clinical cancer genetics to identify in a population the full range of mutant alleles that predispose 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 accurate, 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 diagnostic test focused on 25 Polish recurrent BRCA1/2 genes mutations . Mutation detection method was based on automated MALDI–TOF mass spectrometry in Sequenom MassArray™ system using iPLEX GOLD assay reactions that ends after a Single Base Extension.

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Correspondence to B Gorski.

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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.

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Gorski, B. New diagnostic test for high risk of breast cancer in Poland. Hered Cancer Clin Pract 9, A3 (2011).

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  • Breast Cancer
  • Ovarian Cancer
  • BRCA2 Mutation
  • Mutation Detection
  • Founder Mutation