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

BMC Medical Genetics

Jochen B Geigl²  Michael R Speicher²  Edgar Petru⁵  Christoph Högenauer³  Stephan Jahn¹  Peter Ulz²  Gunda Pristauz⁵  Stephanie M Müller²  Ingrid Lafer²  Sigurd Lax⁴  Ellen Heitzer² 

[1] Institute of Pathology, Medical University of Graz, Auenbruggerplatz 25, A-8036 Graz, Austria;Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria;Division of Gastroenterology and Hepatology, Medical University of Graz, Auenbruggerplatz 15, A-8036 Graz, Austria;Department of Pathology, General Hospital Graz West, Goestingerstrasse 22, A-8020 Graz, Austria;Department of Obstetrics and Gynecology, Medical University of Graz, Auenbruggerplatz 14, A-8036 Graz, Austria

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

Others  :  1122552
DOI  :  10.1186/1471-2350-14-129

 received in 2013-09-12, accepted in 2013-12-18,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Heitzer et al.; licensee BioMed Central Ltd.

【 图 表 】

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