Literature DB >> 35350106

Awareness and Availability of Routine Germline BRCA1/2 Mutation Testing in Patients with Advanced Breast Cancer in Germany.

Michael P Lux1,2,3, Thomas Decker4, Eva Diana Runkel5, Alexander Niyazov6, Ruben G W Quek7, Norbert Marschner8, Nadia Harbeck9.   

Abstract

Introduction: Diagnostic testing of germline mutations in breast cancer susceptibility genes 1 or 2 (gBRCA1/2) in patients with human epidermal growth factor receptor 2 negative (HER2-) advanced breast cancer (ABC; locally advanced or metastatic breast cancer) is necessary to assess eligibility for poly(ADP-ribose) polymerase inhibitors (PARPi). We investigated awareness, clinical practice, and the availability of gBRCA1/2 mutation testing in the German outpatient oncology setting.
Methods: Office-based oncologists completed a 23-item online survey. Responses were evaluated collectively and by center type.
Results: Of 50 oncologists, 33 and 17 were medical and gynecological oncologists, respectively. Oncologists treated a median of 65 (range 14-350) patients with ABC per year. The strongest decision factors to initiate gBRCA1/2 mutation testing were: patient's known family history of gBRCA1/2 mutation-related cancer(s), guideline recommendations, and triple-negative breast cancer (TNBC). In routine practice, 86% of oncologists tested for gBRCA1/2 mutations. Most oncologists (76-98%) reported testing patients with a known family history of gBRCA1/2 mutation-related cancer(s) irrespective of receptor status. For unknown family history, 92% of oncologists reported testing patients with advanced TNBC versus 30% for HR+/HER2- ABC. Oncologists (66%) rated the awareness of therapeutic relevance of gBRCA1/2 mutation testing for targeted treatment selection as good to satisfactory; 22% rated awareness as poor to in-sufficient.
Conclusion: Diagnostic gBRCA1/2 mutation testing in patients with HER2- ABC is available and routinely performed in Germany's outpatient oncology setting. However, specific patient subgroups were not routinely tested despite therapeutic indications. Given PARPi availability, opportunities exist to improve testing rates especially for patients with HR+/HER2- ABC without a known family history of gBRCA1/2 mutation-related cancer(s).
Copyright © 2021 by S. Karger AG, Basel.

Entities:  

Keywords:  Advanced breast cancer; BRCA1/2; Germany; Mutation testing; PARP inhibitors

Year:  2021        PMID: 35350106      PMCID: PMC8914189          DOI: 10.1159/000513596

Source DB:  PubMed          Journal:  Breast Care (Basel)        ISSN: 1661-3791            Impact factor:   2.860


  18 in total

1.  Patient-reported outcomes in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer receiving olaparib versus chemotherapy in the OlympiAD trial.

Authors:  Mark Robson; Kathryn J Ruddy; Seock-Ah Im; Elżbieta Senkus; Binghe Xu; Susan M Domchek; Norikazu Masuda; Wei Li; Nadine Tung; Anne Armstrong; Suzette Delaloge; Wendy Bannister; Carsten Goessl; Arnold Degboe; Robert Hettle; Pierfranco Conte
Journal:  Eur J Cancer       Date:  2019-08-22       Impact factor: 9.162

Review 2.  The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications.

Authors:  Emiliano Honrado; Javier Benítez; José Palacios
Journal:  Mod Pathol       Date:  2005-10       Impact factor: 7.842

3.  Quality of life with talazoparib versus physician's choice of chemotherapy in patients with advanced breast cancer and germline BRCA1/2 mutation: patient-reported outcomes from the EMBRACA phase III trial.

Authors:  J Ettl; R G W Quek; K-H Lee; H S Rugo; S Hurvitz; A Gonçalves; L Fehrenbacher; R Yerushalmi; L A Mina; M Martin; H Roché; Y-H Im; D Markova; H Bhattacharyya; A L Hannah; W Eiermann; J L Blum; J K Litton
Journal:  Ann Oncol       Date:  2018-09-01       Impact factor: 32.976

4.  Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation.

Authors:  Mark Robson; Seock-Ah Im; Elżbieta Senkus; Binghe Xu; Susan M Domchek; Norikazu Masuda; Suzette Delaloge; Wei Li; Nadine Tung; Anne Armstrong; Wenting Wu; Carsten Goessl; Sarah Runswick; Pierfranco Conte
Journal:  N Engl J Med       Date:  2017-06-04       Impact factor: 91.245

5.  International Consensus Conference for Advanced Breast Cancer, Lisbon 2019: ABC5 Consensus - Assessment by a German Group of Experts.

Authors:  Christoph Thomssen; Diana Lüftner; Michael Untch; Renate Haidinger; Rachel Würstlein; Nadia Harbeck; Doris Augustin; Susanne Briest; Johannes Ettl; Peter A Fasching; Frank Förster; Christian M Kurbacher; Hans-Joachim Lück; Norbert Marschner; Lothar Müller; Volkmar Müller; Lidia Perlova-Griff; Isabel Radke; Eugen Ruckhäberle; Iris Scheffen; Eva Schumacher-Wulf; Moritz Schwoerer; Dieter Steinfeld-Birg; Katja Ziegler-Löhr
Journal:  Breast Care (Basel)       Date:  2020-02-10       Impact factor: 2.860

6.  Talazoparib versus chemotherapy in patients with germline BRCA1/2-mutated HER2-negative advanced breast cancer: final overall survival results from the EMBRACA trial.

Authors:  J K Litton; S A Hurvitz; L A Mina; H S Rugo; K-H Lee; A Gonçalves; S Diab; N Woodward; A Goodwin; R Yerushalmi; H Roché; Y-H Im; W Eiermann; R G W Quek; T Usari; S Lanzalone; A Czibere; J L Blum; M Martin; J Ettl
Journal:  Ann Oncol       Date:  2020-08-20       Impact factor: 32.976

7.  Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.

Authors:  Karoline B Kuchenbaecker; John L Hopper; Daniel R Barnes; Kelly-Anne Phillips; Thea M Mooij; Marie-José Roos-Blom; Sarah Jervis; Flora E van Leeuwen; Roger L Milne; Nadine Andrieu; David E Goldgar; Mary Beth Terry; Matti A Rookus; Douglas F Easton; Antonis C Antoniou; Lesley McGuffog; D Gareth Evans; Daniel Barrowdale; Debra Frost; Julian Adlard; Kai-Ren Ong; Louise Izatt; Marc Tischkowitz; Ros Eeles; Rosemarie Davidson; Shirley Hodgson; Steve Ellis; Catherine Nogues; Christine Lasset; Dominique Stoppa-Lyonnet; Jean-Pierre Fricker; Laurence Faivre; Pascaline Berthet; Maartje J Hooning; Lizet E van der Kolk; Carolien M Kets; Muriel A Adank; Esther M John; Wendy K Chung; Irene L Andrulis; Melissa Southey; Mary B Daly; Saundra S Buys; Ana Osorio; Christoph Engel; Karin Kast; Rita K Schmutzler; Trinidad Caldes; Anna Jakubowska; Jacques Simard; Michael L Friedlander; Sue-Anne McLachlan; Eva Machackova; Lenka Foretova; Yen Y Tan; Christian F Singer; Edith Olah; Anne-Marie Gerdes; Brita Arver; Håkan Olsson
Journal:  JAMA       Date:  2017-06-20       Impact factor: 56.272

8.  OlympiAD final overall survival and tolerability results: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer.

Authors:  M E Robson; N Tung; P Conte; S-A Im; E Senkus; B Xu; N Masuda; S Delaloge; W Li; A Armstrong; W Wu; C Goessl; S Runswick; S M Domchek
Journal:  Ann Oncol       Date:  2019-04-01       Impact factor: 32.976

Review 9.  A systematic review of the international prevalence of BRCA mutation in breast cancer.

Authors:  Nigel Armstrong; Steve Ryder; Carol Forbes; Janine Ross; Ruben Gw Quek
Journal:  Clin Epidemiol       Date:  2019-07-11       Impact factor: 4.790

10.  Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician's Choice Standard-of-Care Chemotherapy.

Authors:  Hope S Rugo; Johannes Ettl; Sara A Hurvitz; Anthony Gonçalves; Kyung-Hun Lee; Louis Fehrenbacher; Lida A Mina; Sami Diab; Natasha E Woodward; Rinat Yerushalmi; Annabel Goodwin; Joanne L Blum; Miguel Martin; Ruben G W Quek; Iulia Cristina Tudor; Helen Bhattacharyya; Eric Gauthier; Jennifer K Litton; Wolfgang Eiermann
Journal:  JNCI Cancer Spectr       Date:  2019-10-21
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