Sara Orrsjö

ORCID: 0009-0008-9223-3923
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About
Contact & Profiles
Research Areas
  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • Glioma Diagnosis and Treatment
  • Lung Cancer Treatments and Mutations
  • Genetics, Bioinformatics, and Biomedical Research
  • Pancreatic and Hepatic Oncology Research
  • Biomedical and Engineering Education

University of Gothenburg
2023-2024

Sahlgrenska University Hospital
2023-2024

PURPOSE Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such offers clinically actionable data a prospective broadly inclusive setting remains largely unexplored. METHODS We implemented whole-genome sequencing (WGS) tumor and germline, complemented by whole-transcriptome (RNA-Seq) for all children diagnosed with primary or...

10.1200/po.23.00039 article EN cc-by-nc-nd JCO Precision Oncology 2023-06-01

BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood development. Yet, due variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective study that investigated diagnostic yield clinical impact integrating whole-genome sequencing (gWGS) tumor systematic phenotyping in solid tumors.MethodsgWGS was performed 309 at diagnosis CNS (n =...

10.1016/j.lanepe.2024.100881 article EN cc-by The Lancet Regional Health - Europe 2024-03-19
A M Delgado-Vega Helene Cederroth Fulya Taylan Katja Ekholm Marlene Ek and 95 more Håkan Thonberg Anders Jemt Daniel Nilsson Jesper Eisfeldt Kristine Bilgrav Sæther Ida Höijer Özlem Akgün Doğan Yasuo Asano Tahsin Stefan Barakat Dominyka Batkovskyte Gareth Baynam Olaf A. Bodamer Wanna Chetruengchai Pádraic Corcoran Madeline Couse Daniel Daniš German Demidov Eisuke Dohi Mattias Erhardsson Luis Fernandez-Luna Toyofumi Fujiwara Neha Garg Roberto Giugliani Claudia Gonzaga‐Jauregui Giedré Grigelioniené Tudor Groza Cecilia Gunnarsson Anna Hammarsjö Charles Hammond Özden Hatırnaz Ng Sirisha Hesketh D. Hettiarachchi Maria Soller Umn Ahmed Kirmani Martin Kjellberg Malin Kvarnung Oleg Kvlividze Kristina Lagerstedt‐Robinson Paul Lasko Timo Lassmann Lynette Lau Steven Laurie Weng Khong Lim Zhandong Liu Mariya Lysenkova Wiklander Prince Makay Alassane Baneye Maiga Carolina Maya‐González M. Stephen Meyn Ramprasad Neethiraj Vincenzo Nigro Felix Nordgren Jessica Nordlund Sara Orrsjö Jesper Ottosson Uğur Özbek Özkan Özdemir Clyde Partin David A. Pearce Raquel Peck Annie Pedersén Maria Pettersson Monnat Pongpanich Manuel Posada de la Paz Arun Ramani J. Romero Vanessa Romero Richard Rosenquist Aung Min Saw Matthew Spencer Eva‐Lena Stattin Chalurmpon Srichomthong Isabel Tapia‐Páez Domenica Taruscio Julie P. Taylor Tinatin Tkemaladze Ian Tully Zeynep Tümer Wendy A.G. van Zelst–Stams Alain Verloès Emma Västerviga Sailan Wang Peirong Yang Shinya Yamamoto Vicente A. Yépez Qing Zhang Vorasuk Shotelersuk Samuel Agyei Wiafe Yasemin Alanay Lorenzo D. Botto Salman Kirmani Aimé Lumaka Elizabeth E. Palmer Ratna Dua Puri Valtteri Wirta

10.1038/s41588-024-01941-1 article EN Nature Genetics 2024-10-21
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