Navigation überspringen
Universitätsbibliothek Heidelberg
Status: Bibliographieeintrag

Verfügbarkeit
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Fasching, Peter Andreas [VerfasserIn]   i
 Yadav, Siddhartha [VerfasserIn]   i
 Hu, Chunling [VerfasserIn]   i
 Wunderle, Marius [VerfasserIn]   i
 Häberle, Lothar [VerfasserIn]   i
 Hart, Steven N. [VerfasserIn]   i
 Rübner, Matthias [VerfasserIn]   i
 Polley, Eric C. [VerfasserIn]   i
 Lee, Kun Y. [VerfasserIn]   i
 Gnanaolivu, Rohan D. [VerfasserIn]   i
 Hadji, Peyman [VerfasserIn]   i
 Hübner, Hanna [VerfasserIn]   i
 Tesch, Hans [VerfasserIn]   i
 Ettl, Johannes [VerfasserIn]   i
 Overkamp, Friedrich [VerfasserIn]   i
 Lux, Michael P. [VerfasserIn]   i
 Ekici, Arif B. [VerfasserIn]   i
 Volz, Bernhard [VerfasserIn]   i
 Uhrig, Sabrina [VerfasserIn]   i
 Lüftner, Diana [VerfasserIn]   i
 Wallwiener, Markus [VerfasserIn]   i
 Müller, Volkmar [VerfasserIn]   i
 Belleville, Erik [VerfasserIn]   i
 Untch, Michael [VerfasserIn]   i
 Kolberg, Hans-Christian [VerfasserIn]   i
 Beckmann, Matthias W. [VerfasserIn]   i
 Reis, André [VerfasserIn]   i
 Hartmann, Arndt [VerfasserIn]   i
 Janni, Wolfgang [VerfasserIn]   i
 Wimberger, Pauline [VerfasserIn]   i
 Taran, Florin-Andrei [VerfasserIn]   i
 Fehm, Tanja [VerfasserIn]   i
 Wallwiener, Diethelm [VerfasserIn]   i
 Brucker, Sara [VerfasserIn]   i
 Schneeweiss, Andreas [VerfasserIn]   i
 Hartkopf, Andreas [VerfasserIn]   i
 Couch, Fergus J. [VerfasserIn]   i
Titel:Mutations in BRCA1/2 and other panel genes in patients with metastatic breast cancer
Titelzusatz:association with patient and disease characteristics and effect on prognosis
Verf.angabe:Peter A. Fasching, MD; Siddhartha Yadav, MD; Chunling Hu, PhD; Marius Wunderle, MD; Lothar Häberle, PhD; Steven N. Hart, PhD; Matthias Rübner, PhD; Eric C. Polley, PhD; Kun Y. Lee, PhD; Rohan D. Gnanaolivu, PhD; Peyman Hadji, MD; Hanna Hübner, PhD; Hans Tesch, MD; Johannes Ettl, MD; Friedrich Overkamp, MD; Michael P. Lux, MD; Arif B. Ekici, PhD; Bernhard Volz, PhD; Sabrina Uhrig, PhD; Diana Lüftner, MD; Markus Wallwiener, MD; Volkmar Müller, MD; Erik Belleville, PhD; Michael Untch, MD; Hans-Christian Kolberg, MD; Matthias W. Beckmann, MD; André Reis, MD; Arndt Hartmann, MD; Wolfgang Janni, MD; Pauline Wimberger, MD; Florin-Andrei Taran, MD; Tanja N. Fehm, MD; Diethelm Wallwiener, MD; Sara Y. Brucker, MD; Andreas Schneeweiss, MD; Andreas D. Hartkopf, MD; and Fergus J. Couch, PhD
E-Jahr:2021
Jahr:March 29, 2021
Umfang:12 S.
Fussnoten:Gesehen am 25.01.2022
Titel Quelle:Enthalten in: Journal of clinical oncology
Ort Quelle:Alexandria, Va. : American Society of Clinical Oncology, 1983
Jahr Quelle:2021
Band/Heft Quelle:39(2021), 15, Seite 1619-1630
ISSN Quelle:1527-7755
Abstract:PURPOSE Among patients with metastatic breast cancer (mBC), the frequency of germline mutations in cancer susceptibility genes and the clinical relevance of these mutations are unclear. In this study, a prospective cohort of patients with mBC was used to determine mutation rates for breast cancer (BC) predisposition genes, to evaluate the clinical characteristics of patients with mutations, and to assess the influence of mutations on patient outcome. PATIENTS AND METHODS Germline DNA from 2,595 patients with mBC enrolled in the prospective PRAEGNANT registry was evaluated for mutations in cancer predisposition genes. The frequencies of mutations in known BC predisposition genes were compared with results from a prospective registry of patients with nonmetastatic BC sequenced using the same QIAseq method and with public reference controls. Associations between mutation status and tumor characteristics, progression-free survival, and overall survival were assessed. RESULTS Germline mutations in 12 established BC predisposition genes (including BRCA1 and BRCA2) were detected in 271 (10.4%) patients. A mutation in BRCA1 or BRCA2 was seen in 129 patients (5.0%). BRCA1 mutation carriers had a higher proportion of brain metastasis (27.1%) compared with nonmutation carriers (12.8%). Mutations were significantly enriched in PRAEGNANT patients with mBC compared with patients with nonmetastatic BC (10.4% v 6.6%, P < .01). Mutations did not significantly modify progression-free survival or overall survival for patients with mBC. CONCLUSION Multigene panel testing may be considered in all patients with mBC because of the high frequency of germline mutations in BRCA1/2 and other BC predisposition genes. Although the prognosis of mutation carriers and nonmutation carriers with mBC was similar, differences observed in tumor characteristics have implications for treatment and for future studies of targeted therapies.
DOI:doi:10.1200/JCO.20.01200
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1200/JCO.20.01200
 Volltext: https://ascopubs.org/doi/pdf/10.1200/JCO.20.01200
 DOI: https://doi.org/10.1200/JCO.20.01200
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1787060349
Verknüpfungen:→ Zeitschrift

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/68870315   QR-Code
zum Seitenanfang