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DNA and RNA analyses in detection of genetic predisposition to cancer

Grzegorz Kurzawski1*, Dagmara Dymerska1, Pablo Serrano-Fernández1, Joanna Trubicka2, Bartłomiej Masojć1, Anna Jakubowska1 and Rodney J Scott134

Author Affiliations

1 International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland

2 Department of Medical Genetics, the Children’s Memorial Health Institute, Warsaw, Poland

3 The Discipline of Medical Genetics, Faculty of Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, Australia

4 The Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, Australia

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Hereditary Cancer in Clinical Practice 2012, 10:17  doi:10.1186/1897-4287-10-17

Published: 4 December 2012


During the past decade many new molecular methods for DNA and RNA analysis have emerged. The most popular thus far have been SSCP, HET, CMC, DGGE, RFLP or ASA, which have now been replaced by methods that are more cost effective and less time consuming. Real-time amplification techniques and particularly those with the capacity of multiplexing have become commonly used in laboratory practice. Novel screening methods enable the very rapid examination of large patients series. Use of liquid handling robotics applied to the isolation of DNA or RNA, the normalisation of sample concentration, and standardization of target amplification by PCR have also contributed to a reduced risk of sample contamination and have resulted in laboratory analysis being easier and faster.

The aim of this study is the introduction of a few modern techniques, most commonly used in detection of genetic predisposition to cancer.

Constitutional changes; Hereditary cancer; Techniques; Diagnoses