TY  - JOUR
A1  - Abboud, Tammam
A1  - Asendorf, Thomas
A1  - Heinrich, Jutta
A1  - Faust, Katharina
A1  - Krieg, Sandro M.
A1  - Seidel, Kathleen
A1  - Mielke, Dorothee
A1  - Matthies, Cordola
A1  - Ringel, Florian
A1  - Rohde, Veit
A1  - Szelényi, Andrea
T1  - Transcranial versus direct cortical stimulation for motor-evoked potentials during resection of supratentorial tumors under general anesthesia (the TRANSEKT-trial): study protocol for a randomized controlled trial
JF  - Biomedicines
N2  - Background: Monitoring of motor function during surgery for supratentorial tumors under general anesthesia applies either transcranial electrical stimulation (TES) or direct cortical stimulation (DCS) to elicit motor-evoked potentials. To date, there is no guideline that favor one method over the other. Therefore, we designed this randomized study to compare between both methods regarding the prediction of postoperative motor deficits and extent of tumor resection. Methods: This is a multicenter (six centers in Germany and one in Switzerland), double blind, parallel group, exploratory, randomized controlled clinical trial. Patients without or with mild paresis, who are scheduled for surgical resection of motor-eloquent brain tumors under general anesthesia will be randomized to surgical resection under TES or surgical resection under DCS. The primary endpoint is sensitivity and specificity in prognosis of motor function 7 days after surgery. The main secondary endpoint is the extent of tumor resection. The study is planned to include 120 patients within 2 years. Discussion: The present exploratory study should compare TES and DCS regarding sensitivity and specificity in predicting postoperative motor deficit and extent of tumor resection to calculate the required number of patients in a confirmatory trial to test the superiority of one method over the other.
KW  - threshold criterion
KW  - amplitude criterion
KW  - intraoperative monitoring
KW  - transcranial motor-evoked potentials
KW  - direct cortical stimulation
KW  - threshold level
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-248513
SN  - 2227-9059
VL  - 9
IS  - 10
ER  - 
TY  - JOUR
A1  - Hauke, Jan
A1  - Horvath, Judit
A1  - Groß, Eva
A1  - Gehrig, Andrea
A1  - Honisch, Ellen
A1  - Hackmann, Karl
A1  - Schmidt, Gunnar
A1  - Arnold, Norbert
A1  - Faust, Ulrike
A1  - Sutter, Christian
A1  - Hentschel, Julia
A1  - Wang-Gohrke, Shan
A1  - Smogavec, Mateja
A1  - Weber, Bernhard H. F.
A1  - Weber-Lassalle, Nana
A1  - Weber-Lassalle, Konstantin
A1  - Borde, Julika
A1  - Ernst, Corinna
A1  - Altmüller, Janine
A1  - Volk, Alexander E.
A1  - Thiele, Holger
A1  - Hübbel, Verena
A1  - Nürnberg, Peter
A1  - Keupp, Katharina
A1  - Versmold, Beatrix
A1  - Pohl, Esther
A1  - Kubisch, Christian
A1  - Grill, Sabine
A1  - Paul, Victoria
A1  - Herold, Natalie
A1  - Lichey, Nadine
A1  - Rhiem, Kerstin
A1  - Ditsch, Nina
A1  - Ruckert, Christian
A1  - Wappenschmidt, Barbara
A1  - Auber, Bernd
A1  - Rump, Andreas
A1  - Niederacher, Dieter
A1  - Haaf, Thomas
A1  - Ramser, Juliane
A1  - Dworniczak, Bernd
A1  - Engel, Christoph
A1  - Meindl, Alfons
A1  - Schmutzler, Rita K.
A1  - Hahnen, Eric
T1  - Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
JF  - Cancer Medicine
N2  - The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing. The highest mutation prevalence was observed in the CHEK2 gene (2.5%), followed by ATM (1.5%) and PALB2 (1.2%). The mutation prevalence in each of the remaining genes was 0.3% or lower. Using Exome Aggregation Consortium control data, we confirm significant associations of heterozygous germ line mutations with BC for ATM (OR: 3.63, 95%CI: 2.67–4.94), CDH1 (OR: 17.04, 95%CI: 3.54–82), CHEK2 (OR: 2.93, 95%CI: 2.29–3.75), PALB2 (OR: 9.53, 95%CI: 6.25–14.51), and TP53 (OR: 7.30, 95%CI: 1.22–43.68). NBN germ line mutations were not significantly associated with BC risk (OR:1.39, 95%CI: 0.73–2.64). Due to their low mutation prevalence, the RAD51C and RAD51D genes require further investigation. Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. Compared with the overall sample, only TP53 mutation carriers show a significantly younger age at first BC diagnosis. We demonstrate a significant association of deleterious variants in the CHEK2, PALB2, and TP53 genes with bilateral BC. Both, ATM and CHEK2, were negatively associated with triple-negative breast cancer (TNBC) and estrogen receptor (ER)-negative tumor phenotypes. A particularly high CHEK2 mutation prevalence (5.2%) was observed in patients with human epidermal growth factor receptor 2 (HER2)-positive tumors.
KW  - breast cancer predisposition
KW  - hereditary breast cancer
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-227902
ER  -