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Open Access Case report

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma

Ellen Heitzer1, Sigurd Lax2, Ingrid Lafer1, Stephanie M Müller1, Gunda Pristauz3, Peter Ulz1, Stephan Jahn4, Christoph Högenauer5, Edgar Petru3, Michael R Speicher1 and Jochen B Geigl1*

Author Affiliations

1 Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria

2 Department of Pathology, General Hospital Graz West, Goestingerstrasse 22, A-8020 Graz, Austria

3 Department of Obstetrics and Gynecology, Medical University of Graz, Auenbruggerplatz 14, A-8036 Graz, Austria

4 Institute of Pathology, Medical University of Graz, Auenbruggerplatz 25, A-8036 Graz, Austria

5 Division of Gastroenterology and Hepatology, Medical University of Graz, Auenbruggerplatz 15, A-8036 Graz, Austria

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BMC Medical Genetics 2013, 14:129  doi:10.1186/1471-2350-14-129

Published: 29 December 2013

Abstract

Background

Germline genetic testing for familial cancer syndromes is usually performed serially for the most likely genetic causes. In recent years the way genetic testing carried out has changed, as next generation sequencing now allows the simultaneous testing of multiple susceptibility genes at low costs.

Case presentation

Here, we present a female with bilateral breast cancer and endometrial adenocarcinoma. After simultaneous sequencing of 150 genes (890 kb) associated with hereditary cancer we identified pathogenic mutations in two high-penetrance genes, i.e. TP53 and CDH1 that would most likely not have been elucidated by serial screening of candidate genes.

Conclusion

As the two mutated genes are located on different chromosomes and cause different cancer syndromes these findings had a tremendous impact not only on genetic counseling of the index patient and her family but also on subsequent surveillance strategies.

Keywords:
Multiplex genetic testing; Cancer susceptibility; TP53; CDH1; Next generation sequencing; NGS