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Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
Muranen, Taru A; Khan, Sofia; Fagerholm, Rainer; Aittomäki, Kristiina; Cunningham, Julie M; Dennis, Joe; Leslie, Goska; McGuffog, Lesley; Parsons, Michael T; Simard, Jacques; Slager, Susan; Soucy, Penny; Easton, Douglas F; Tischkowitz, Marc; Spurdle, Amanda B; Schmutzler, Rita K; Wappenschmidt, Barbara; Hahnen, Eric; Hooning, Maartje J; Singer, Christian F; Wagner, Gabriel; Thomassen, Mads; Pedersen, Inge Sokilde; Domchek, Susan M; Nathanson, Katherine L; Lazaro, Conxi; Rossing, Caroline Maria; Andrulis, Irene L; Teixeira, Manuel R; James, Paul; Garber, Judy; Weitzel, Jeffrey N; Jakubowska, Anna; Yannoukakos, Drakoulis; John, Esther M; Southey, Melissa C; Schmidt, Marjanka K; Antoniou, Antonis C; Chenevix-Trench, Georgia; Blomqvist, Carl; Nevanlinna, Heli.
Afiliação
  • Muranen TA; University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
  • Khan S; University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
  • Fagerholm R; University of Turku and Åbo Akademi University, Turku Bioscience Centre, Turku, Finland.
  • Aittomäki K; University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
  • Cunningham JM; University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
  • Dennis J; Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN USA.
  • Leslie G; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
  • McGuffog L; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
  • Parsons MT; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
  • Simard J; QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD Australia.
  • Slager S; CHU de Quebec Research Center, Genomics Center, Québec City, QC Canada.
  • Soucy P; Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
  • Easton DF; CHU de Quebec Research Center, Genomics Center, Québec City, QC Canada.
  • Tischkowitz M; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
  • Spurdle AB; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
  • Schmutzler RK; University of Cambridge, Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, UK.
  • Wappenschmidt B; QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD Australia.
  • Hooning MJ; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
  • Singer CF; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
  • Wagner G; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.
  • Thomassen M; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
  • Pedersen IS; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.
  • Domchek SM; Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, The Netherlands.
  • Lazaro C; Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
  • Rossing CM; Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
  • Andrulis IL; Odense University Hospital, Department of Clinical Genetics, Odence C, Denmark.
  • Teixeira MR; Aalborg University Hospital, Molecular Diagnostics, Aalborg, Denmark.
  • James P; Aalborg University, Dept of Clinical Medicine, Aalborg, Denmark.
  • Garber J; Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA USA.
  • Weitzel JN; Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA USA.
  • Jakubowska A; Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark.
  • Yannoukakos D; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON Canada.
  • John EM; University of Toronto, Department of Molecular Genetics, Toronto, ON Canada.
  • Southey MC; Portuguese Oncology Institute, Department of Genetics, Porto, Portugal.
  • Schmidt MK; University of Porto, Biomedical Sciences Institute (ICBAS), Porto, Portugal.
  • Antoniou AC; Peter MacCallum Cancer Center, Parkville Familial Cancer Centre, Melbourne, VIC Australia.
  • Chenevix-Trench G; The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC Australia.
  • Blomqvist C; Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA USA.
  • Nevanlinna H; City of Hope, Clinical Cancer Genomics, Duarte, CA USA.
NPJ Breast Cancer ; 6: 44, 2020.
Article em En | MEDLINE | ID: mdl-32964118
ABSTRACT
Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants in BRCA1 or BRCA2 genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of BRCA1 carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, P = 3.1 × 10-9). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article