Heritable defects in telomere and mitotic function selectively predispose to sarcomas-Reference-Cited by-同舟云学术

Heritable defects in telomere and mitotic function selectively predispose to sarcomas

Published:2023-01-20 Issue:6629 Volume:379 Page:253-260
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Ballinger Mandy L.¹²^ORCID,Pattnaik Swetansu¹²^ORCID,Mundra Piyushkumar A.¹²^ORCID,Zaheed Milita³^ORCID,Rath Emma¹^ORCID,Priestley Peter⁴⁵^ORCID,Baber Jonathan⁴⁵^ORCID,Ray-Coquard Isabelle⁶^ORCID,Isambert Nicholas⁷,Causeret Sylvain⁷^ORCID,van der Graaf Winette T. A.⁸^ORCID,Puri Ajay⁹^ORCID,Duffaud Florence¹⁰^ORCID,Le Cesne Axel¹¹,Seddon Beatrice¹²,Chandrasekar Coonoor¹³,Schiffman Joshua D.¹⁴^ORCID,Brohl Andrew S.¹⁵^ORCID,James Paul A.¹⁶¹⁷^ORCID,Kurtz Jean-Emmanuel¹⁸,Penel Nicolas¹⁹^ORCID,Myklebost Ola²⁰²¹²²^ORCID,Meza-Zepeda Leonardo A.²²^ORCID,Pickett Hilda²³,Kansara Maya¹²^ORCID,Waddell Nicola²⁴^ORCID,Kondrashova Olga²⁴^ORCID,Pearson John V.²⁴^ORCID,Barbour Andrew P.²⁵,Li Shuai²⁶²⁷²⁸²⁹^ORCID,Nguyen Tuong L.²⁶^ORCID,Fatkin Diane²³⁰³¹^ORCID,Graham Robert M.²³⁰^ORCID,Giannoulatou Eleni²³²^ORCID,Green Melissa J.³³³⁴^ORCID,Kaplan Warren¹²^ORCID,Ravishankar Shyamsundar¹^ORCID,Copty Joseph¹^ORCID,Powell Joseph E.¹³⁵^ORCID,Cuppen Edwin⁴^ORCID,van Eijk Kristel³⁶,Veldink Jan³⁶^ORCID,Ahn Jin-Hee³⁷^ORCID,Kim Jeong Eun³⁷^ORCID,Randall R. Lor³⁸^ORCID,Tucker Kathy³^ORCID,Judson Ian⁸^ORCID,Sarin Rajiv³⁹^ORCID,Ludwig Thomas⁴⁰^ORCID,Genin Emmanuelle⁴⁰^ORCID,Deleuze Jean-Francois⁴¹^ORCID,Haber Michelle⁴²^ORCID,Marshall Glenn⁴²⁴³^ORCID,Cairns Murray J.⁴⁴⁴⁵^ORCID,Blay Jean-Yves⁶^ORCID,Thomas David M.¹²^ORCID, ,

Affiliation:

1. Garvan Institute of Medical Research, Sydney 2010, Australia.

2. St Vincent’s Clinical School, University of New South Wales, Sydney 2010, Australia.

3. Hereditary Cancer Centre, Prince of Wales Hospital, Sydney 2031, Australia.

4. Hartwig Medical Foundation, 1098 XH Amsterdam, Netherlands.

5. Hartwig Medical Foundation Australia, Sydney 2000, Australia.

6. Department of Adult Medical Oncology, Centre Leon Berard, University Claude Bernard, 69373 Lyon, France.

7. Centre Georges Francois Leclerc, 21000 Dijon, France.

8. Sarcoma Unit, The Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK.

9. Department of Orthopedic Oncology, Tata Memorial Hospital, Mumbai, Maharashtra 400012, India.

10. la Timone University Hospital, 13005 Marseille, France.

11. Gustave Roussy, 94805 Villejuif, France.

12. Sarcoma Unit, University College Hospital, London NW1 2BU, UK.

13. Liverpool University Hospitals NHS Foundation Trust, Liverpool L7 8XP, UK.

14. Division of Pediatric Hematology/Oncology, Department of Pediatrics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.

15. Sarcoma Department, Moffitt Cancer Center, Tampa, FL 33612, USA.

16. The Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne 3010, Australia.

17. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne 3000, Australia.

18. Centre Hospitalier Universitaire Hautepierre, 67200 Strasbourg, France.

19. Centre Oscar Lambret, 59000 Lille, France.

20. Western Norway Familial Cancer Centre, Haukeland University Hospital, 5021 Bergen, Norway.

21. Department of Clinical Science, University of Bergen, 5007 Bergen, Norway.

22. Institute for Cancer Research, Oslo University Hospital, N-0424 Oslo, Norway.

23. Children’s Medical Research Institute, The University of Sydney, Westmead 2145, Australia.

24. QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.

25. Faculty of Medicine. The University of Queensland, Brisbane 4072, Australia.

26. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne 3010, Australia.

27. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

28. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3800, Australia.

29. Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville 3051, Australia.

30. Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst 2010, Australia.

31. Cardiology Department, St Vincent’s Hospital, Sydney 2010, Australia.

32. Computational Genomics Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.

33. School of Psychiatry, University of New South Wales, Sydney 2052, Australia.

34. Neuorscience Research Australia, Sydney 2031, Australia.

35. UNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney 2052, Australia.

36. Department of Neurology, University Medical Centre Utrecht Brain Center, Utrecht University, 3584 CX Utrecht, Netherlands.

37. Department of Oncology, Asan Medical Centre, Seoul 05505, South Korea.

38. Department of Orthopaedic Surgery, University of California, Davis Health, Sacramento, CA 95817, USA.

39. Cancer Genetics Unit, ACTREC, Tata Memorial Centre, Mumbai, Maharashtra 410210, India.

40. Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, 29200 Brest, France.

41. Centre National de Recherche en Génomique Humaine, Institut de Génomique, 91057 Evry, France.

42. Children’s Cancer Institute, Lowy Cancer Research Centre, University of New South Wales, Kensington 2033, Australia.

43. Kids Cancer Centre, Sydney Children’s Hospital, Randwick 2031, Australia.

44. School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia.

45. Centre for Brain and Mental Health Research, The Hunter Medical Research Institute, Newcastle 2305, Australia.

Abstract

Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls. Using an extreme phenotype design, a combined rare-variant burden and ontologic analysis identified two sarcoma-specific pathways involved in mitotic and telomere functions. Variants in centrosome genes are linked to malignant peripheral nerve sheath and gastrointestinal stromal tumors, whereas heritable defects in the shelterin complex link susceptibility to sarcoma, melanoma, and thyroid cancers. These studies indicate a specific role for heritable defects in mitotic and telomere biology in risk of sarcomas.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Link

https://www.science.org/doi/pdf/10.1126/science.abj4784

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