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Dicks E, Song H, Ramus SJ, et al. Germline whole exome sequencing and large-scale replication identifies . Oncotarget. 2017;8(31):50930-50940doi: 10.18632/oncotarget.15871.
Dicks, E., Song, H., Ramus, S. J., Oudenhove, E. V., Tyrer, J. P., Intermaggio, M. P., Kar, S., Harrington, P., Bowtell, D. D., Group, A. S., Cicek, M. S., Cunningham, J. M., Fridley, B. L., Alsop, J., Jimenez-Linan, M., Piskorz, A., Goranova, T., Kent, E., Siddiqui, N., Paul, J., Crawford, R., Poblete, S., Lele, S., Sucheston-Campbell, L., Moysich, K. B., Sieh, W., McGuire, V., Lester, J., Odunsi, K., Whittemore, A. S., Bogdanova, N., Dürst, M., Hillemanns, P., Karlan, B. Y., Gentry-Maharaj, A., Menon, U., Tischkowitz, M., Levine, D., Brenton, J. D., Dörk, T., Goode, E. L., Gayther, S. A., & Pharoah, D. P. P. (2017). Germline whole exome sequencing and large-scale replication identifies . Oncotarget, 8(31), 50930-50940. https://doi.org/10.18632/oncotarget.15871
Dicks, Ed, et al. "Germline whole exome sequencing and large-scale replication identifies ." Oncotarget vol. 8,31 (2017): 50930-50940. doi: https://doi.org/10.18632/oncotarget.15871
Dicks E, Song H, Ramus SJ, Oudenhove EV, Tyrer JP, Intermaggio MP, Kar S, Harrington P, Bowtell DD, Group AS, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Piskorz A, Goranova T, Kent E, Siddiqui N, Paul J, Crawford R, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Odunsi K, Whittemore AS, Bogdanova N, Dürst M, Hillemanns P, Karlan BY, Gentry-Maharaj A, Menon U, Tischkowitz M, Levine D, Brenton JD, Dörk T, Goode EL, Gayther SA, Pharoah DPP. Germline whole exome sequencing and large-scale replication identifies . Oncotarget. 2017 Mar 03;8(31):50930-50940. doi: 10.18632/oncotarget.15871. eCollection 2017 Aug 01. PMID: 28881617; PMCID: PMC5584218.
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Oncotarget. 2017 Mar 03;8(31):50930-50940. doi: 10.18632/oncotarget.15871. eCollection 2017 Aug 01.

Germline whole exome sequencing and large-scale replication identifies .

Oncotarget

Ed Dicks, Honglin Song, Susan J Ramus, Elke Van Oudenhove, Jonathan P Tyrer, Maria P Intermaggio, Siddhartha Kar, Patricia Harrington, David D Bowtell, Aocs Study Group, Mine S Cicek, Julie M Cunningham, Brooke L Fridley, Jennifer Alsop, Mercedes Jimenez-Linan, Anna Piskorz, Teodora Goranova, Emma Kent, Nadeem Siddiqui, James Paul, Robin Crawford, Samantha Poblete, Shashi Lele, Lara Sucheston-Campbell, Kirsten B Moysich, Weiva Sieh, Valerie McGuire, Jenny Lester, Kunle Odunsi, Alice S Whittemore, Natalia Bogdanova, Matthias Dürst, Peter Hillemanns, Beth Y Karlan, Aleksandra Gentry-Maharaj, Usha Menon, Marc Tischkowitz, Douglas Levine, James D Brenton, Thilo Dörk, Ellen L Goode, Simon A Gayther, D P Paul Pharoah

Affiliations

  1. Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
  2. School of Women's and Children's Health, University of New South Wales, Sydney, Australia.
  3. The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.
  4. Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK.
  5. Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
  6. Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, Victoria, Australia.
  7. Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
  8. Ovarian Cancer Action Research Centre, Department of Surgery and Cancer, Imperial College London, London, UK.
  9. Westmead Millennium Institute, Westmead Hospital, Sydney, Australia.
  10. The QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  11. Mayo Clinic, Rochester, Minnesota, USA.
  12. Department of Biostatistics, University of Kansas Medical Center, Kansas City, Kansas, USA.
  13. Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK.
  14. MRC Clinical Trials Unit, University College London, London, UK.
  15. Cancer Research UK Clinical Trials Unit, Institute of Cancer Sciences, University of Glasgow, Glasgow, Scotland.
  16. Dept Gynaecol Oncology, Glasgow Royal Infirmary, Glasgow, Scotland.
  17. Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  18. Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, New York, USA.
  19. Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA.
  20. Department of Health Research and Policy - Epidemiology, Stanford University School of Medicine, Stanford, California, USA.
  21. Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  22. Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
  23. Radiation Oncology Research Unit, Hannover Medical School, Hannover, Germany.
  24. Mother and Child Hospital, Minsk, Belarus.
  25. Department of Obstetrics and Gynaecology, Friedrich-Schiller University, Jena, Germany.
  26. Clinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
  27. Department of Women's Cancer, UCL EGA Institute for Women's Health, University College London, London, UK.
  28. Department of Medical Genetic, University of Cambridge, Cambridge, UK.
  29. Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
  30. Center for Bioinformatics and Functional Genomics, Department Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  31. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

PMID: 28881617 PMCID: PMC5584218 DOI: 10.18632/oncotarget.15871

Abstract

We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Genome Atlas Project and identified 5,517 genes harboring a predicted deleterious germline coding mutation in at least one HGSOC case. Gene-set enrichment analysis showed enrichment for genes involved in DNA repair (p = 1.8×10

Keywords: DNA repair; next generation sequencing; ovarian cancer; susceptibility genes

Conflict of interest statement

CONFLICTS OF INTEREST The authors have no conflict of interests.

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