Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

• DOI: 10.1371/journal.pone.0186043
• Publication Date: 2017-10-20T13:34:31Z
• Authors: Philipp Harter; Jan Hauke; Florian Heitz; Alexander Reuss; Stefan Kommoss; Frederik Marmé; André Heimbach; Katharina Prieske; Lisa Richters; Alexander Burges; Guido Neidhardt; Nikolaus de Gregorio; Ahmed El-Balat; Felix Hilpert; Werner Meier; Rainer Kimmig; Karin Kast; Jalid Sehouli; Klaus Baumann; Christian Jackisch; Tjoung-Won Park-S...; Lars Hanker; Sandra Kröber; Jacobus Pfisterer; Heidrun Gevensleben; Andreas Schnelzer; Dimo Dietrich; Tanja Neunhöffer; Mathias Krockenbe...; Sara Y. Brucker; Peter Nürnberg; Holger Thiele; Janine Altmüller; Josefin Lamla; Gabriele Elser; Andreas du Bois; Eric Hahnen; Rita Schmutzler
• Keywords: CHEK2; PALB2; MSH6; MSH2; MLH1

Identification of families at risk for ovarian cancer offers the opportunity to consider prophylactic surgery thus reducing mortality. So far, identification potentially affected in Germany was solely performed via family history and numbers members with breast or cancer. However, neither prevalence deleterious variants BRCA1/2 nor reliability as trigger genetic counselling has ever been evaluated.