Medizinische Universität Graz - Research portal

Logo MUG Resarch Portal

Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB.
Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
BMC Med Genet. 2013; 14(1):129-129 Doi: 10.1186/1471-2350-14-129 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Leading authors Med Uni Graz
Geigl Jochen Bernd
Heitzer Ellen
Co-authors Med Uni Graz
Hoegenauer Christoph
Jahn Stephan
Lafer Ingrid
Müller Stephanie Martha
Petru Edgar
Pristauz-Telsnigg Gunda
Speicher Michael
Ulz Peter

Dimensions Citations:

Plum Analytics:

Scite (citation analytics):

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. 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. 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.
Find related publications in this database (using NLM MeSH Indexing)
Adenocarcinoma - genetics
Breast Neoplasms - genetics
Cadherins - genetics
Endometrial Neoplasms - genetics
Female -
Genetic Testing - methods
Humans -
Male -
Middle Aged -
Mutation -
Pedigree -
Tumor Suppressor Protein p53 - genetics

Find related publications in this database (Keywords)
Multiplex genetic testing
Cancer susceptibility
Next generation sequencing
© Med Uni GrazImprint