title: Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Ellen
authors.initials: E
authors.lastname: Heitzer
authors.forename: Sigurd
authors.initials: S
authors.lastname: Lax
authors.forename: Ingrid
authors.initials: I
authors.lastname: Lafer
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Müller
authors.forename: Gunda
authors.initials: G
authors.lastname: Pristauz
authors.forename: Peter
authors.initials: P
authors.lastname: Ulz
authors.forename: Stephan
authors.initials: S
authors.lastname: Jahn
authors.forename: Christoph
authors.initials: C
authors.lastname: Högenauer
authors.forename: Edgar
authors.initials: E
authors.lastname: Petru
authors.forename: Michael R
authors.initials: MR
authors.lastname: Speicher
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria. jochen.geigl@medunigraz.at.
authors.forename: Jochen B
authors.initials: JB
authors.lastname: Geigl
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D015703:Antigens, CD; D001943:Breast Neoplasms / Q000235:genetics*; D015820:Cadherins / Q000235:genetics* / Q000378:metabolism; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000378:metabolism
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53