ArticleScience (New York, N.Y.)2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
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In one paragraph
Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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33citing papers in PubMed, 1 pooled it
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- SEOM-GEIS Spanish clinical guidelines for the management of soft‑tissue sarcomas (2024).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Guideline
- Aristolochic Acid and Alternative Lengthening of Telomeres Mechanisms Underlie Liver Angiosarcoma Pathogenesis.Liver cancer · 2026Article
- Patient-partnered multiomics reveals the molecular architecture of angiosarcoma.Nature communications · 2026Article
- Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.International journal of molecular sciences · 2026Article
- Understanding and Overcoming Osteosarcoma Heterogeneity.Biomolecules · 2026Review
- Detection of Longer Leukocyte Telomere Length in Patients With Bone Sarcomas.World journal of oncology · 2026Article
- SMARCAL1 is a new osteosarcoma predisposition gene.Journal of the National Cancer Institute · 2026Article
- Article
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.Pigment cell & melanoma research · 2026Article
- Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and IdentifiesJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Synchronous Occurrence of Gastric Signet Ring Cell Carcinoma and Pulmonary Fibrosarcoma in 23-Year-Old Male Youth.Clinical case reports · 2025Article
- Leiomyosarcoma Therapeutic Approaches and Future Directions.Hematology/oncology clinics of North America · 2025Review
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Sarcoma: Last Year's Practice Changing Papers.Annals of surgical oncology · 2025Review
- Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.JAMA network open · 2024Article
- DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma.Surgical oncology insight · 2024Article
- Article
- The Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.European journal of human genetics : EJHG · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
151 authors.
Mandy L BallingerGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0002-9706-0514
Swetansu PattnaikGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0003-3598-7733
Piyushkumar A MundraGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0001-7769-2939
Milita ZaheedHereditary Cancer Centre, Prince of Wales Hospital, Sydney 2031, Australia.ORCID 0000-0002-2495-0209
Emma RathGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0002-8430-5236
Peter PriestleyHartwig Medical Foundation, 1098 XH Amsterdam, Netherlands.ORCID 0000-0002-4939-7104
Jonathan BaberHartwig Medical Foundation, 1098 XH Amsterdam, Netherlands.ORCID 0000-0002-5238-7994
Isabelle Ray-CoquardDepartment of Adult Medical Oncology, Centre Leon Berard, University Claude Bernard, 69373 Lyon, France.ORCID 0000-0003-2472-8306
Nicholas IsambertCentre Georges Francois Leclerc, 21000 Dijon, France.
Sylvain CauseretCentre Georges Francois Leclerc, 21000 Dijon, France.ORCID 0000-0001-6589-9043
Winette T A van der GraafSarcoma Unit, The Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK.ORCID 0000-0001-7549-3338
Ajay PuriDepartment of Orthopedic Oncology, Tata Memorial Hospital, Mumbai, Maharashtra 400012, India.ORCID 0000-0002-4323-753X
Florence Duffaudla Timone University Hospital, 13005 Marseille, France.ORCID 0000-0002-2057-3557
Axel Le CesneGustave Roussy, 94805 Villejuif, France.
Beatrice SeddonSarcoma Unit, University College Hospital, London NW1 2BU, UK.
Coonoor ChandrasekarLiverpool University Hospitals NHS Foundation Trust, Liverpool L7 8XP, UK.
Joshua D SchiffmanDivision of Pediatric Hematology/Oncology, Department of Pediatrics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.ORCID 0000-0002-6968-7694
Andrew S BrohlSarcoma Department, Moffitt Cancer Center, Tampa, FL 33612, USA.ORCID 0000-0002-0071-0534
Paul A JamesThe Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne 3010, Australia.ORCID 0000-0002-4361-4657
Jean-Emmanuel KurtzCentre Hospitalier Universitaire Hautepierre, 67200 Strasbourg, France.
Nicolas PenelCentre Oscar Lambret, 59000 Lille, France.ORCID 0000-0001-5243-1548
Ola MyklebostWestern Norway Familial Cancer Centre, Haukeland University Hospital, 5021 Bergen, Norway.ORCID 0000-0002-2866-3223
Leonardo A Meza-ZepedaInstitute for Cancer Research, Oslo University Hospital, N-0424 Oslo, Norway.ORCID 0000-0003-3056-212X
Hilda PickettChildren's Medical Research Institute, The University of Sydney, Westmead 2145, Australia.
Maya KansaraGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0003-1908-3574
Nicola WaddellQIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.ORCID 0000-0002-3950-2476
Olga KondrashovaQIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.ORCID 0000-0003-0022-5149
John V PearsonQIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.ORCID 0000-0003-0904-4598
Andrew P BarbourFaculty of Medicine. The University of Queensland, Brisbane 4072, Australia.
Shuai LiCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne 3010, Australia.ORCID 0000-0002-8696-8594
Tuong L NguyenCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne 3010, Australia.ORCID 0000-0002-6597-8363
Diane FatkinSt Vincent's Clinical School, University of New South Wales, Sydney 2010, Australia.ORCID 0000-0002-9010-9856
Robert M GrahamSt Vincent's Clinical School, University of New South Wales, Sydney 2010, Australia.ORCID 0000-0002-1042-2587
Eleni GiannoulatouSt Vincent's Clinical School, University of New South Wales, Sydney 2010, Australia.ORCID 0000-0002-7084-6736
Melissa J GreenSchool of Psychiatry, University of New South Wales, Sydney 2052, Australia.ORCID 0000-0002-9361-4874
Warren KaplanGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0003-0043-3554
Shyamsundar RavishankarGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0003-3006-6134
Joseph CoptyGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0002-8602-119X
Joseph E PowellGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0002-5070-4124
Edwin CuppenHartwig Medical Foundation, 1098 XH Amsterdam, Netherlands.ORCID 0000-0002-0400-9542
Kristel van EijkDepartment of Neurology, University Medical Centre Utrecht Brain Center, Utrecht University, 3584 CX Utrecht, Netherlands.
Jan VeldinkDepartment of Neurology, University Medical Centre Utrecht Brain Center, Utrecht University, 3584 CX Utrecht, Netherlands.ORCID 0000-0001-5572-9657
Jin-Hee AhnDepartment of Oncology, Asan Medical Centre, Seoul 05505, South Korea.ORCID 0000-0003-4994-9965
Jeong Eun KimDepartment of Oncology, Asan Medical Centre, Seoul 05505, South Korea.ORCID 0000-0001-9766-1531
R Lor RandallDepartment of Orthopaedic Surgery, University of California, Davis Health, Sacramento, CA 95817, USA.ORCID 0000-0002-3660-774X
Kathy TuckerHereditary Cancer Centre, Prince of Wales Hospital, Sydney 2031, Australia.ORCID 0000-0002-7180-6576
Ian JudsonSarcoma Unit, The Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK.ORCID 0000-0002-4766-5304
Rajiv SarinCancer Genetics Unit, ACTREC, Tata Memorial Centre, Mumbai, Maharashtra 410210, India.ORCID 0000-0002-6405-8282
Thomas LudwigUniversité de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, 29200 Brest, France.ORCID 0000-0002-9996-1084
Emmanuelle GeninUniversité de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, 29200 Brest, France.ORCID 0000-0003-4117-2813
Jean-Francois DeleuzeCentre National de Recherche en Génomique Humaine, Institut de Génomique, 91057 Evry, France.ORCID 0000-0002-5358-4463
French Exome Project Consortium
Michelle HaberChildren's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales, Kensington 2033, Australia.ORCID 0000-0003-2036-8817
Glenn MarshallChildren's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales, Kensington 2033, Australia.ORCID 0000-0002-2503-0762
Murray J CairnsSchool of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia.ORCID 0000-0003-2490-2538
Jean-Yves BlayDepartment of Adult Medical Oncology, Centre Leon Berard, University Claude Bernard, 69373 Lyon, France.ORCID 0000-0001-7190-120X
International Sarcoma Kindred Study
David M ThomasGarvan Institute of Medical Research, Sydney 2010, Australia.ORCID 0000-0002-2527-5428
Martin Tattersall
Susan Neuhaus
Craig Lewis
Kathy Tucker
Richard Carey-Smith
David Wood
Sandro Porceddu
Ian Dickinson
Heather Thorne
Paul James
Isabelle Ray-Coquard
Jean-Yves Blay
Philippe Cassier
Axel Le Cesne
Florence Duffaud
Nicolas Penel
Nicolas Isambert
Jean-Emmanuel Kurtz
Ajay Puri
Rajiv Sarin
Jin-Hee Ahn
Jeong Eun Kim
Iain Ward
Ian Judson
Winette van der Graaf
Beatrice Seddon
Coonoor Chandrasekar
Rory Rickar
Ivo Hennig
Joshua Schiffman
R Lor Randall
Audrey Silvestri
Anaiis Zaratzian
Michael Tayao
Kelly Walwyn
Eveline Niedermayr
Denia Mang
Richard Clark
Tina Thorpe
Jessica MacDonald
Kim Riddell
Jasmine Mar
Vicki Fennelly
Allison Wicht
Belinda Zielony
Emma Galligan
Genna Glavich
Johanna Stoeckert
Lynda Williams
Lana Djandjgava
Iwona Buettner
Carla Osinki
Sonya Stephens
Muriel Rogasik
Laure Bouclier
Magali Girodet
Amandine Charreton
Yohan Fayet
Saniya Crasto
Bhanupriya Sandupatla
Yeon Yoon
Noda Je
Liz Thompson
Trent Fowler
Bella Johnson
Galina Petrikova
Thomas Hambridge
Angela Hutchins
Diego Bottero
Deborah Scanlon
Jo Stokes-Denson
Emmanuelle Génin
Dominique Campion
Jean-François Dartigues
Jean-François Deleuze
Jean-Charles Lambert
Richard Redon
Thomas Ludwig
Benjamin Grenier-Boley
Sébastien Letort
Pierre Lindenbaum
Vincent Meyer
Olivier Quenez
Christian Dina
Céline Bellenguez
Camille Charbonnier Le Clézio
Joanna Giemza
Stéphanie Chatel
Claude Férec
Hervé Le Marec
Luc Letenneur
Gaël Nicolas
Karen Rouault
Funding
PROJECT 3: Applying Liquid Biopsy Technologies to Detect Clinical Response and Mechanisms of Resistance in the Treatment of LMSP50CA272170 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI JUDY E. GARBER · 2022 to 2026
$13.3MNCI NIH HHS P50 CA272170
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.
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationMitosisSarcomaTelomereGenetic VariationGerm CellsHumansMelanomaShelterin ComplexShelterin Complex
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