Display options
Share it on

NPJ Breast Cancer. 2020 Sep 10;6:44. doi: 10.1038/s41523-020-00185-6. eCollection 2020.

Association of germline variation with the survival of women with .

NPJ breast cancer

Taru A Muranen, Sofia Khan, Rainer Fagerholm, Kristiina Aittomäki, Julie M Cunningham, Joe Dennis, Goska Leslie, Lesley McGuffog, Michael T Parsons, Jacques Simard, Susan Slager, Penny Soucy, Douglas F Easton, Marc Tischkowitz, Amanda B Spurdle, Rita K Schmutzler, Barbara Wappenschmidt, Eric Hahnen, Maartje J Hooning, Christian F Singer, Gabriel Wagner, Mads Thomassen, Inge Sokilde Pedersen, Susan M Domchek, Katherine L Nathanson, Conxi Lazaro, Caroline Maria Rossing, Irene L Andrulis, Manuel R Teixeira, Paul James, Judy Garber, Jeffrey N Weitzel, Anna Jakubowska, Drakoulis Yannoukakos, Esther M John, Melissa C Southey, Marjanka K Schmidt, Antonis C Antoniou, Georgia Chenevix-Trench, Carl Blomqvist, Heli Nevanlinna

Affiliations

  1. University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
  2. University of Turku and Åbo Akademi University, Turku Bioscience Centre, Turku, Finland.
  3. University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
  4. Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN USA.
  5. University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
  6. QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD Australia.
  7. CHU de Quebec Research Center, Genomics Center, Québec City, QC Canada.
  8. Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
  9. University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
  10. McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montréal, QC Canada.
  11. University of Cambridge, Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, UK.
  12. Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
  13. Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany.
  14. Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, The Netherlands.
  15. Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
  16. Odense University Hospital, Department of Clinical Genetics, Odence C, Denmark.
  17. Aalborg University Hospital, Molecular Diagnostics, Aalborg, Denmark.
  18. 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. 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. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON Canada.
  23. University of Toronto, Department of Molecular Genetics, Toronto, ON Canada.
  24. Portuguese Oncology Institute, Department of Genetics, Porto, Portugal.
  25. University of Porto, Biomedical Sciences Institute (ICBAS), Porto, Portugal.
  26. Peter MacCallum Cancer Center, Parkville Familial Cancer Centre, Melbourne, VIC Australia.
  27. The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC Australia.
  28. Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA USA.
  29. City of Hope, Clinical Cancer Genomics, Duarte, CA USA.
  30. Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
  31. Pomeranian Medical University, Independent Laboratory of Molecular Biology and Genetic Diagnostics, Szczecin, Poland.
  32. National Centre for Scientific Research 'Demokritos', Molecular Diagnostics Laboratory, INRASTES, Athens, Greece.
  33. Stanford Cancer Institute, Stanford University School of Medicine, Department of Medicine, Division of Oncology, Stanford, CA USA.
  34. Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC Australia.
  35. The University of Melbourne, Department of Clinical Pathology, Melbourne, VIC Australia.
  36. The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.
  37. The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Division of Psychosocial Research and Epidemiology, Amsterdam, The Netherlands.
  38. University of Helsinki, Department of Oncology, Helsinki University Hospital, Helsinki, Finland.
  39. Örebro University Hospital, Department of Oncology, Örebro, Sweden.

PMID: 32964118 PMCID: PMC7483417 DOI: 10.1038/s41523-020-00185-6

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

© The Author(s) 2020.

Keywords: Breast cancer; Cancer genetics; Genome-wide association studies

Conflict of interest statement

Competing interestsH.N. has received an honorarium from AstraZeneca. The other authors declare no competing interests.

References

  1. Nat Genet. 2017 Dec;49(12):1767-1778 - PubMed
  2. Cancer Epidemiol Biomarkers Prev. 2017 Jan;26(1):126-135 - PubMed
  3. Nature. 2017 Jan 26;541(7638):541-545 - PubMed
  4. JAMA. 2017 Jun 20;317(23):2402-2416 - PubMed
  5. Breast. 2017 Feb;31:46-50 - PubMed
  6. Neoplasia. 2013 Jun;15(6):600-8 - PubMed
  7. Cancer Cell Int. 2016 Aug 05;16:64 - PubMed
  8. Mol Cell. 2013 Nov 7;52(3):459-67 - PubMed
  9. Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):134-47 - PubMed
  10. Nature. 2012 Apr 18;486(7403):346-52 - PubMed
  11. Neoplasma. 2018 Nov 15;65(6):888-897 - PubMed
  12. Breast Cancer Res. 2015 Apr 22;17:58 - PubMed
  13. Mol Cell. 2012 Nov 30;48(4):572-86 - PubMed
  14. Database (Oxford). 2017 Jan 1;2017: - PubMed
  15. Int J Cancer. 2012 May 1;130(9):2103-10 - PubMed
  16. Am J Pathol. 2001 Jul;159(1):119-30 - PubMed
  17. Curr Protoc Bioinformatics. 2016 Jun 20;54:1.30.1-1.30.33 - PubMed
  18. Ann Oncol. 2015 Aug;26(8):1533-46 - PubMed
  19. Cell Rep. 2018 Apr 17;23(3):823-837 - PubMed
  20. Nat Genet. 2013 Oct;45(10):1238-1243 - PubMed
  21. Acta Biochim Biophys Sin (Shanghai). 2017 Jul 1;49(7):581-587 - PubMed
  22. Medicine (Baltimore). 2016 Oct;95(40):e4975 - PubMed
  23. Cell. 2014 Dec 18;159(7):1665-80 - PubMed
  24. J Mol Cell Biol. 2019 Sep 19;11(9):725-735 - PubMed
  25. Cancers (Basel). 2019 May 28;11(6): - PubMed
  26. Breast Cancer Res. 2005;7(4):R465-9 - PubMed
  27. Virchows Arch. 2018 May;472(5):697-703 - PubMed
  28. Ann Oncol. 2013 Sep;24(9):2206-23 - PubMed
  29. Oncotarget. 2017 Jun 27;8(37):61890-61900 - PubMed
  30. Cancer Res. 2018 Sep 1;78(17):4915-4928 - PubMed
  31. Ann Oncol. 2012 Dec;23(12):3051-3057 - PubMed
  32. Onco Targets Ther. 2017 Oct 26;10:5195-5208 - PubMed
  33. J Neurosci Res. 2010 Dec;88(16):3578-87 - PubMed
  34. Stem Cells. 2015 Aug;33(8):2442-55 - PubMed
  35. Cancer Res. 2004 Dec 1;64(23):8541-9 - PubMed
  36. Int J Cancer. 2013 May 1;132(9):2044-55 - PubMed
  37. Mol Pathol. 2001 Oct;54(5):300-6 - PubMed
  38. Oncotarget. 2016 Oct 25;7(43):70699-70714 - PubMed
  39. Breast Cancer Res Treat. 2010 Oct;123(3):725-31 - PubMed
  40. PLoS One. 2013 Jul 31;8(7):e70680 - PubMed
  41. Genome Biol. 2018 Oct 4;19(1):151 - PubMed
  42. Endocr Rev. 2020 Apr 1;41(2): - PubMed
  43. Bioinformatics. 2018 Mar 1;34(5):887-889 - PubMed
  44. Nat Genet. 2008 Jul;40(7):844-53 - PubMed
  45. J Clin Oncol. 2009 Mar 10;27(8):1160-7 - PubMed
  46. Genome Res. 2012 Sep;22(9):1790-7 - PubMed
  47. Nat Genet. 2013 Jun;45(6):580-5 - PubMed
  48. Nature. 2012 Sep 6;489(7414):57-74 - PubMed
  49. Int J Cancer. 2019 Apr 15;144(8):1941-1953 - PubMed
  50. PLoS One. 2015 Mar 27;10(3):e0120189 - PubMed
  51. BMC Med Genomics. 2015 Aug 22;8:54 - PubMed
  52. Ann Oncol. 2019 Jul 1;30(7):1071-1079 - PubMed
  53. Clin Cancer Res. 2015 Sep 15;21(18):4086-4096 - PubMed
  54. Cancer Sci. 2017 Dec;108(12):2454-2461 - PubMed
  55. Br J Cancer. 2019 Mar;120(6):647-657 - PubMed
  56. Am J Hum Genet. 2007 Aug;81(2):208-27 - PubMed
  57. Nature. 2015 Oct 1;526(7571):68-74 - PubMed
  58. Int J Oncol. 2018 Jul;53(1):167-176 - PubMed
  59. Int J Biol Sci. 2012;8(1):59-65 - PubMed
  60. Histopathology. 1991 Nov;19(5):403-10 - PubMed
  61. N Engl J Med. 2017 Aug 10;377(6):523-533 - PubMed
  62. Cancer Treat Rev. 2016 Jul;48:34-41 - PubMed
  63. Clin Cancer Res. 2009 May 1;15(9):3214-22 - PubMed
  64. Int J Cancer. 2016 Dec 15;139(12):2760-2770 - PubMed
  65. Mol Cell Biol. 2017 Jun 15;37(13): - PubMed
  66. Curr Opin Support Palliat Care. 2014 Mar;8(1):33-8 - PubMed
  67. Oncotarget. 2015 Apr 10;6(10):7390-407 - PubMed
  68. Breast Cancer Res. 2007;9(3):R39 - PubMed
  69. Nature. 2017 Nov 2;551(7678):92-94 - PubMed
  70. Bioinformatics. 2015 Nov 1;31(21):3555-7 - PubMed
  71. Science. 2015 May 8;348(6235):648-60 - PubMed
  72. Lancet Oncol. 2018 Feb;19(2):169-180 - PubMed
  73. Lancet Oncol. 2007 Nov;8(11):1001-6 - PubMed
  74. Dis Mon. 1998 Sep;44(9):421-546 - PubMed

Publication Types

Grant support