Article open access publication

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Oncotarget, Impact Journals, LLC, ISSN 1949-2553

Volume 8, 61, 2017

DOI:10.18632/oncotarget.21800, Dimensions: pub.1099598996, PMC: PMC5732689, PMID: 29262523,

Authors

Liu, Tao (1)
Du, Quan (1)
Wang, Qin (4)
Blot, William (13) (14)
Boeckx, Bram (15) (16)
Bojesen, Stig E. (17) (18) (19)
Brauch, Hiltrud (10) (21) (22)
Burwinkel, Barbara (10) (25)
Fasching, Peter A (11) (32)
Figueroa, Jonine (33) (34)
Giles, Graham G (37) (38)
Guo, Qi (4)
Gündert, Melanie (10) (25)
Kosma, Veli-Matti (46) (47)
Kristensen, Vessela N. (48) (49) (50)
Mannermaa, Arto (46) (47)
Milne, Roger L. (37) (38)
Pylkäs, Katri (56) (57)
Winqvist, Robert (56) (57)
Zheng, Wei (14)
Benitez, Javier (39) (63)
Hall, Per (1)

Affiliations

Organisations

  1. (1) Karolinska Institute, grid.4714.6
  2. (2) Uppsala University, grid.8993.b
  3. (3) Cyprus Institute of Neurology and Genetics, grid.417705.0
  4. (4) University of Cambridge, grid.5335.0
  5. (5) Roswell Park Cancer Institute, grid.240614.5
  6. (6) Mount Sinai Hospital, grid.416166.2
  7. (7) University of Toronto, grid.17063.33
  8. (8) University of California, Irvine, grid.266093.8
  9. (9) 10, N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus
  10. (10) German Cancer Research Center, grid.7497.d
  11. (11) 12, Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany
  12. (12) 13, Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  13. (13) International Epidemiology Institute, grid.419344.f
  14. (14) 14, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA
  15. (15) Flanders Institute for Biotechnology, grid.11486.3a
  16. (16) KU Leuven, grid.5596.f
  17. (17) 18, Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  18. (18) 19, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  19. (19) University of Copenhagen, grid.5254.6, KU
  20. (20) European Institute of Oncology, grid.15667.33
  21. (21) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, grid.502798.1
  22. (22) University of Tübingen, grid.10392.39
  23. (23) Antoni van Leeuwenhoek Hospital, grid.430814.a
  24. (24) Ruhr University Bochum, grid.5570.7
  25. (25) Heidelberg University, grid.7700.0
  26. (26) University Cancer Center Hamburg, grid.412315.0
  27. (27) Mayo Clinic, grid.66875.3a
  28. (28) University of Sheffield, grid.11835.3e
  29. (29) Leiden University Medical Center, grid.10419.3d
  30. (30) London School of Hygiene & Tropical Medicine, grid.8991.9
  31. (31) Hannover Medical School, grid.10423.34
  32. (32) University of California, Los Angeles, grid.19006.3e
  33. (33) University of Edinburgh, grid.4305.2
  34. (34) National Cancer Institute, grid.48336.3a
  35. (35) University Medical Center Hamburg-Eppendorf, grid.13648.38
  36. (36) 60, Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  37. (37) University of Melbourne, grid.1008.9
  38. (38) Cancer Council Victoria, grid.3263.4
  39. (39) Spanish National Cancer Research Centre, grid.7719.8
  40. (40) 64, Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France
  41. (41) University of Southern California, grid.42505.36
  42. (42) Erasmus University Medical Center, grid.5645.2
  43. (43) Pomeranian Medical University, grid.107950.a
  44. (44) Institute of Cancer Research, grid.18886.3f
  45. (45) National University of Ireland, Galway, grid.6142.1
  46. (46) Kuopio University Hospital, grid.410705.7
  47. (47) University of Eastern Finland, grid.9668.1
  48. (48) 41, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
  49. (49) 42, Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway
  50. (50) Oslo University Hospital, grid.55325.34
  51. (51) University of Hawaii at Manoa, grid.410445.0
  52. (52) Technical University of Munich, grid.6936.a
  53. (53) University Health Network, grid.231844.8
  54. (54) City Of Hope National Medical Center, grid.410425.6
  55. (55) 82, Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  56. (56) 84, Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland
  57. (57) University of Oulu, grid.10858.34
  58. (58) Fondazione IRCCS Istituto Nazionale dei Tumori, grid.417893.0
  59. (59) King's College London, grid.13097.3c
  60. (60) University Hospital Cologne, grid.411097.a
  61. (61) University of Cologne, grid.6190.e
  62. (62) Laval University, grid.23856.3a
  63. (63) 96, Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain

Description

Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD >2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.

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Times Cited: 4

Field Citation Ratio (FCR): 1.26

Relative Citation ratio (RCR): 0.19

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