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New diagnostic test for high risk of breast cancer in Poland

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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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Keywords

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