3
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

      research-article
      1 , , 1 , 2 , 1 , 3 , 4 , 5 , 5 , 5 , 6 , 7 , 8 , 7 , 5 , 9 , 10 , 11 , 6 , kConFab Investigators, 12 , 13 , 12 , 13 , 12 , 13 , 14 , HEBON Investigators, 15 , 15 , 16 , 17 , 18 , 19 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , SWE-BRCA Investigators, 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 5 , 6 , 38 , 39 , 1
      NPJ Breast Cancer
      Nature Publishing Group UK
      Breast cancer, Cancer genetics, Genome-wide association studies

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          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.

          Related collections

          Most cited references54

          • Record: found
          • Abstract: not found
          • Article: not found

          Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            Tailoring therapies—improving the management of early breast cancer: St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2015

            The 14th St Gallen International Breast Cancer Conference (2015) reviewed new evidence on locoregional and systemic therapies for early breast cancer. This manuscript presents news and progress since the 2013 meeting, provides expert opinion on almost 200 questions posed to Consensus Panel members, and summarizes treatment-oriented classification of subgroups and treatment recommendations.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Pathological prognostic factors in breast cancer. I. The value of histological grade in breast cancer: experience from a large study with long-term follow-up.

              Morphological assessment of the degree of differentiation has been shown in numerous studies to provide useful prognostic information in breast cancer, but until recently histological grading has not been accepted as a routine procedure, mainly because of perceived problems with reproducibility and consistency. In the Nottingham/Tenovus Primary Breast Cancer Study the most commonly used method, described by Bloom & Richardson, has been modified in order to make the criteria more objective. The revised technique involves semiquantitative evaluation of three morphological features--the percentage of tubule formation, the degree of nuclear pleomorphism and an accurate mitotic count using a defined field area. A numerical scoring system is used and the overall grade is derived from a summation of individual scores for the three variables: three grades of differentiation are used. Since 1973, over 2200 patients with primary operable breast cancer have been entered into a study of multiple prognostic factors. Histological grade, assessed in 1831 patients, shows a very strong correlation with prognosis; patients with grade I tumours have a significantly better survival than those with grade II and III tumours (P less than 0.0001). These results demonstrate that this method for histological grading provides important prognostic information and, if the grading protocol is followed consistently, reproducible results can be obtained. Histological grade forms part of the multifactorial Nottingham prognostic index, together with tumour size and lymph node stage, which is used to stratify individual patients for appropriate therapy.
                Bookmark

                Author and article information

                Contributors
                taru.a.muranen@helsinki.fi
                Journal
                NPJ Breast Cancer
                NPJ Breast Cancer
                NPJ Breast Cancer
                Nature Publishing Group UK (London )
                2374-4677
                10 September 2020
                10 September 2020
                2020
                : 6
                : 44
                Affiliations
                [1 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, University of Helsinki, Department of Obstetrics and Gynecology, , Helsinki University Hospital, ; Helsinki, Finland
                [2 ]GRID grid.1374.1, ISNI 0000 0001 2097 1371, University of Turku and Åbo Akademi University, Turku Bioscience Centre, ; Turku, Finland
                [3 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, University of Helsinki, Department of Clinical Genetics, , Helsinki University Hospital, ; Helsinki, Finland
                [4 ]GRID grid.66875.3a, ISNI 0000 0004 0459 167X, Mayo Clinic, Department of Laboratory Medicine and Pathology, ; Rochester, MN USA
                [5 ]GRID grid.5335.0, ISNI 0000000121885934, University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, ; Cambridge, UK
                [6 ]GRID grid.1049.c, ISNI 0000 0001 2294 1395, QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, ; Brisbane, QLD Australia
                [7 ]GRID grid.411081.d, ISNI 0000 0000 9471 1794, CHU de Quebec Research Center, Genomics Center, ; Québec City, QC Canada
                [8 ]GRID grid.66875.3a, ISNI 0000 0004 0459 167X, Mayo Clinic, Department of Health Sciences Research, ; Rochester, MN USA
                [9 ]GRID grid.5335.0, ISNI 0000000121885934, University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, ; Cambridge, UK
                [10 ]GRID grid.14709.3b, ISNI 0000 0004 1936 8649, McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, ; Montréal, QC Canada
                [11 ]GRID grid.5335.0, ISNI 0000000121885934, University of Cambridge, Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, ; Cambridge, UK
                [12 ]GRID grid.6190.e, ISNI 0000 0000 8580 3777, Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, ; Cologne, Germany
                [13 ]GRID grid.6190.e, ISNI 0000 0000 8580 3777, Faculty of Medicine and University Hospital Cologne, , University of Cologne, Center for Molecular Medicine Cologne (CMMC), ; Cologne, Germany
                [14 ]GRID grid.5645.2, ISNI 000000040459992X, Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, ; Rotterdam, The Netherlands
                [15 ]GRID grid.22937.3d, ISNI 0000 0000 9259 8492, Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, ; Vienna, Austria
                [16 ]GRID grid.7143.1, ISNI 0000 0004 0512 5013, Odense University Hospital, Department of Clinical Genetics, ; Odence C, Denmark
                [17 ]GRID grid.27530.33, ISNI 0000 0004 0646 7349, Aalborg University Hospital, Molecular Diagnostics, ; Aalborg, Denmark
                [18 ]GRID grid.5117.2, ISNI 0000 0001 0742 471X, Aalborg University, Dept of Clinical Medicine, ; Aalborg, Denmark
                [19 ]Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA USA
                [20 ]GRID grid.418701.b, ISNI 0000 0001 2097 8389, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Molecular Diagnostic Unit, Hereditary Cancer Program, ; Barcelona, Spain
                [21 ]Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark
                [22 ]GRID grid.250674.2, ISNI 0000 0004 0626 6184, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, ; Toronto, ON Canada
                [23 ]GRID grid.17063.33, ISNI 0000 0001 2157 2938, University of Toronto, Department of Molecular Genetics, ; Toronto, ON Canada
                [24 ]GRID grid.418711.a, ISNI 0000 0004 0631 0608, Portuguese Oncology Institute, Department of Genetics, ; Porto, Portugal
                [25 ]GRID grid.5808.5, ISNI 0000 0001 1503 7226, University of Porto, Biomedical Sciences Institute (ICBAS), ; Porto, Portugal
                [26 ]GRID grid.1055.1, ISNI 0000000403978434, Peter MacCallum Cancer Center, Parkville Familial Cancer Centre, ; Melbourne, VIC Australia
                [27 ]GRID grid.1008.9, ISNI 0000 0001 2179 088X, The University of Melbourne, Sir Peter MacCallum Department of Oncology, ; Melbourne, VIC Australia
                [28 ]GRID grid.65499.37, ISNI 0000 0001 2106 9910, Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, ; Boston, MA USA
                [29 ]GRID grid.410425.6, ISNI 0000 0004 0421 8357, City of Hope, Clinical Cancer Genomics, ; Duarte, CA USA
                [30 ]GRID grid.107950.a, ISNI 0000 0001 1411 4349, Pomeranian Medical University, Department of Genetics and Pathology, ; Szczecin, Poland
                [31 ]GRID grid.107950.a, ISNI 0000 0001 1411 4349, Pomeranian Medical University, Independent Laboratory of Molecular Biology and Genetic Diagnostics, ; Szczecin, Poland
                [32 ]GRID grid.6083.d, ISNI 0000 0004 0635 6999, National Centre for Scientific Research ‘Demokritos’, Molecular Diagnostics Laboratory, INRASTES, ; Athens, Greece
                [33 ]GRID grid.168010.e, ISNI 0000000419368956, Stanford Cancer Institute, Stanford University School of Medicine, Department of Medicine, Division of Oncology, ; Stanford, CA USA
                [34 ]GRID grid.1002.3, ISNI 0000 0004 1936 7857, Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, ; Clayton, VIC Australia
                [35 ]GRID grid.1008.9, ISNI 0000 0001 2179 088X, The University of Melbourne, Department of Clinical Pathology, ; Melbourne, VIC Australia
                [36 ]GRID grid.430814.a, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, ; Amsterdam, The Netherlands
                [37 ]GRID grid.430814.a, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Division of Psychosocial Research and Epidemiology, ; Amsterdam, The Netherlands
                [38 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, University of Helsinki, Department of Oncology, , Helsinki University Hospital, ; Helsinki, Finland
                [39 ]GRID grid.412367.5, ISNI 0000 0001 0123 6208, Örebro University Hospital, Department of Oncology, ; Örebro, Sweden
                Author information
                http://orcid.org/0000-0002-5895-1808
                http://orcid.org/0000-0002-8159-3025
                http://orcid.org/0000-0003-4591-1214
                http://orcid.org/0000-0001-5756-6222
                http://orcid.org/0000-0003-3242-8477
                http://orcid.org/0000-0001-6906-3390
                http://orcid.org/0000-0003-2444-3247
                http://orcid.org/0000-0003-1337-7897
                http://orcid.org/0000-0002-9902-8040
                http://orcid.org/0000-0002-6740-0901
                http://orcid.org/0000-0002-7198-5906
                http://orcid.org/0000-0002-4226-6435
                http://orcid.org/0000-0002-4896-5982
                http://orcid.org/0000-0002-4361-4657
                http://orcid.org/0000-0001-6714-092X
                http://orcid.org/0000-0002-5650-0501
                http://orcid.org/0000-0001-7509-3510
                http://orcid.org/0000-0002-2228-429X
                http://orcid.org/0000-0002-0916-2976
                Article
                185
                10.1038/s41523-020-00185-6
                7483417
                6216efaa-03ae-4d64-875e-7993dff218c8
                © The Author(s) 2020

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 21 January 2020
                : 11 August 2020
                Categories
                Article
                Custom metadata
                © The Author(s) 2020

                breast cancer,cancer genetics,genome-wide association studies

                Comments

                Comment on this article