• Media type: E-Article
  • Title: Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer – A Feasibility Study
  • Contributor: Jaeger, Bernadette Anna Sophia; Krawczyk, Natalia; Japp, Anna Sophia; Honisch, Ellen; Köhrer, Karl; Scheuring, Sibylle; Petzsch, Patrick; Neubauer, Hans; Volkmer, Anne Kathrin; Esposito, Irene; Ruckhäberle, Eugen; Niederacher, Dieter; Fehm, Tanja
  • imprint: Georg Thieme Verlag KG, 2023
  • Published in: Geburtshilfe und Frauenheilkunde
  • Language: German
  • DOI: 10.1055/a-2150-9440
  • ISSN: 0016-5751; 1438-8804
  • Keywords: Maternity and Midwifery ; Obstetrics and Gynecology
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>The purpose of this feasibility study was to select targeted therapies according to “ESMO Scale for Clinical Actionability of molecular Targets (ESCAT)”. Data interpretation was further supported by a browser-based Treatment Decision Support platform (MH Guide, Molecular Health, Heidelberg, Germany).</jats:p><jats:p>We applied next generation sequencing based whole exome sequencing of tumor tissue and peripheral blood of patients with metastatic breast cancer (n = 44) to detect somatic as well as germline mutations.</jats:p><jats:p>In 32 metastatic breast cancer patients, data interpretation was feasible. We identified 25 genomic alterations with ESCAT Level of Evidence I or II in 18/32 metastatic breast cancer patients, which were available for evaluation: three copy number gains in HER2, two gBRCA1, two gBRCA2, six PIK3CA, one ESR1, three PTEN, one AKT1 and two HER2 mutations. In addition, five samples displayed Microsatellite instability high-H.</jats:p><jats:p>Resulting treatment options were discussed in a tumor board and could be recommended in a small but relevant proportion of patients with metastatic breast cancer (7/18). Thus, this study is a valuable preliminary work for the establishment of a molecular tumor board within the German initiative “Center for Personalized Medicine” which aims to shorten time for analyses and optimize selection of targeted therapies.</jats:p>
  • Access State: Open Access