Sökning: WFRF:(Lagerstedt Kristina) > Diagnostic yield an...
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003 | SwePub | |
008 | 240320s2024 | |||||||||||000 ||eng| | |
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009 | oai:DiVA.org:liu-204370 | |
009 | oai:gup.ub.gu.se/338587 | |
009 | oai:prod.swepub.kib.ki.se:158323403 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5252802 URI |
024 | 7 | a https://doi.org/10.1016/j.lanepe.2024.1008812 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2229812 URI |
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024 | 7 | a https://lup.lub.lu.se/record/0863266c-a3e8-44ca-90ef-54ab307dbf6a2 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-2043702 URI |
024 | 7 | a https://gup.ub.gu.se/publication/3385872 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1583234032 URI |
040 | a (SwePub)uud (SwePub)umud (SwePub)kthd (SwePub)lud (SwePub)liud (SwePub)gud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
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100 | 1 | a Tesi, Biancau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
245 | 1 0 | a Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors :b a nationwide, prospective Swedish study |
264 | 1 | b Elsevier,c 2024 |
338 | a electronic2 rdacarrier | |
500 | a De fyra sista författarna delar sistaförfattarskapet | |
500 | a QC 20240617 | |
500 | a Funding Agencies|Swedish Childhood Cancer Fund; Ministry of Health and Social Affairs | |
520 | a BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.MethodsgWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.FindingsThe prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).InterpretationOverall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
653 | a Childhood cancer predisposition | |
653 | a Whole-genome sequencing | |
653 | a Germline variants | |
653 | a Somatic mutations | |
653 | a Childhood cancer predisposition | |
653 | a Germline variants | |
653 | a Somatic mutations | |
653 | a Whole-genome sequencing | |
700 | 1 | a Lagerstedt Robinson, Kristinau Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Abel, Frida,d 1974u Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital,Sahlgrens Univ Hosp, Sweden; Univ Gothenburg, Sweden,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xabefr |
700 | 1 | a Díaz de Ståhl, Teresitau Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Orrsjö, Sara,d 1983u Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska University Hospital,Sahlgrenska Academy,Sahlgrens Univ Hosp, Sweden; Univ Gothenburg, Sweden,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xorrsa |
700 | 1 | a Poluha, Annau Uppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi,Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden,Uppsala Univ Hosp, Sweden; Uppsala Univ, Sweden4 aut0 (Swepub:uu)annpo486 |
700 | 1 | a Hellberg, Mariau Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Sweden4 aut |
700 | 1 | a Wessman, Sandrau Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Samuelsson, Sofieu Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Sweden4 aut |
700 | 1 | a Frisk, Tonyu Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden4 aut |
700 | 1 | a Vogt, Hartmutu Linköpings universitet,Linköping University,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus4 aut0 (Swepub:liu)harki85 |
700 | 1 | a Henning, Karinu Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Inst, Sweden4 aut |
700 | 1 | a Sabel, Magnus,d 1966u Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital,Queen Silvia Children’s Hospital,Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsabma |
700 | 1 | a Ek, Torben,d 1963u Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital,Queen Silvia Children’s Hospital,Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xektoa |
700 | 1 | a Pal, Niklasu Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden,Karolinska Inst, Sweden4 aut |
700 | 1 | a Nyman, Peru Linköpings universitet,Linköping University,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus,Karolinska Univ Hosp, Sweden4 aut0 (Swepub:liu)perny73 |
700 | 1 | a Giraud, Géraldineu Karolinska Institutet,Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Neuroonkologi och neurodegeneration,Barnonkologisk forskning - särskilt fokus på komplikationer,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden,Uppsala Univ, Sweden4 aut0 (Swepub:uu)gergi266 |
700 | 1 | a Wille, Joakimu Childhood Cancer Center, Skåne University Hospital, Lund, Sweden,Skane Univ Hosp, Sweden4 aut |
700 | 1 | a Pronk, Cornelis Janu Lund University,Lunds universitet,Avdelningen för molekylär hematologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,WCMM- Wallenberg center för molekylär medicinsk forskning,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Molecular Hematology (DMH),Department of Laboratory Medicine,Faculty of Medicine,WCMM-Wallenberg Centre for Molecular Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital,Skane Univ Hosp, Sweden; Lund Univ, Sweden4 aut0 (Swepub:lu)stem-kpr |
700 | 1 | a Norén-Nyström, Ulrikau Umeå University,Umeå universitet,Pediatrik,Umea Univ, Sweden4 aut0 (Swepub:umu)kagr0007 |
700 | 1 | a Borssén, Magnusu Umeå University,Umeå universitet,Pediatrik,Umea Univ, Sweden4 aut0 (Swepub:umu)musbon02 |
700 | 1 | a Fili, Mariau Karolinska Institute,St Erik Eye Hospital,Karolinska Inst, Sweden; St Erik Eye Hosp, Sweden4 aut |
700 | 1 | a Stålhammar, Gustavu Karolinska Institute,St Erik Eye Hospital,Karolinska Inst, Sweden; St Erik Eye Hosp, Sweden4 aut |
700 | 1 | a Herold, Nikolasu Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden4 aut |
700 | 1 | a Tettamanti, Giorgiou Karolinska Institute,Karolinska Inst, Sweden; Karolinska Inst, Sweden4 aut |
700 | 1 | a Maya-Gonzalez, Carolinau Karolinska Institute,Karolinska Inst, Sweden4 aut |
700 | 1 | a Arvidsson, Lindau Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Sweden4 aut |
700 | 1 | a Rosén, Anna,d 1975-u Umeå University,Umeå universitet,Onkologi,Umea Univ, Sweden4 aut0 (Swepub:umu)anaron95 |
700 | 1 | a Ekholm, Katjau Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Kuchinskaya, Ekaterinau Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden,Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)ekaku57 |
700 | 1 | a Hallbeck, Anna-Lottau Linköpings universitet,Linköping University,Linköping University Hospital,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)annha32 |
700 | 1 | a Nordling, Margaretau Linköpings universitet,Linköping University,Linköping University Hospital,Avdelningen för cell- och neurobiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik4 aut0 (Swepub:liu)marno69 |
700 | 1 | a Palmebäck, Piau Karolinska Institutet4 aut0 (Swepub:liu)piapa49 |
700 | 1 | a Kogner, Peru Karolinska Institute,Karolinska University Hospital,Off Med Serv, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Kanter Smoler, Gunillau Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden,Sahlgrens Univ Hosp, Sweden4 aut |
700 | 1 | a Lähteenmäki, Päiviu Karolinska Institute,Karolinska Inst, Sweden4 aut |
700 | 1 | a Fransson, Susanneu University of Gothenburg,Sahlgrenska University Hospital,Sahlgrenska Academy,Sahlgrens Univ Hosp, Sweden; Univ Gothenburg, Sweden4 aut |
700 | 1 | a Martinsson, Tommy,d 1956u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine4 aut0 (Swepub:gu)xmarto |
700 | 1 | a Shamik, Aliau Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Mertens, Fredriku Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Sweden4 aut |
700 | 1 | a Rosenquist, Richardu Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Wirta, Valtteriu KTH Royal Institute of Technology,Karolinska Institute,KTH,KTH Genome Center,Science for Life Laboratory, SciLifeLab,Genteknologi,Karolinska University Hospital,Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden; KTH Royal Inst Technol, Sweden4 aut0 (Swepub:kth)u1u59vht |
700 | 1 | a Tham, Emmau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Grillner, Pernillau Karolinska Institute,Karolinska University Hospital,Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden4 aut |
700 | 1 | a Sandgren, Johannau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Ljungman, Gustaf,d 1958-u Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden,Uppsala Univ, Sweden4 aut0 (Swepub:uu)gustaflm |
700 | 1 | a Gisselsson, Davidu Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Sweden4 aut |
700 | 1 | a Taylan, Fulyau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut |
700 | 1 | a Nordgren, Ann,d 1964u Gothenburg University,Göteborgs universitet,Karolinska Institute,Sahlgrenska University Hospital,Karolinska University Hospital,Sahlgrenska Academy,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden; Sahlgrens Univ Hosp, Sweden; Univ Gothenburg, Sweden,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xnannb |
710 | 2 | a Karolinska Instituteb Karolinska University Hospital4 org |
773 | 0 | t The Lancet Regional Healthd : Elsevierg 39q 39x 2666-7762 |
856 | 4 | u https://doi.org/10.1016/j.lanepe.2024.100881y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1846011/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u http://dx.doi.org/10.1016/j.lanepe.2024.100881x freey FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525280 |
856 | 4 8 | u https://doi.org/10.1016/j.lanepe.2024.100881 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222981 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-347911 |
856 | 4 8 | u https://lup.lub.lu.se/record/0863266c-a3e8-44ca-90ef-54ab307dbf6a |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-204370 |
856 | 4 8 | u https://gup.ub.gu.se/publication/338587 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:158323403 |
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