Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

Waszak Sebastian M.; Northcott Paul A.; Buchhalter Ivo; Robinson Giles W.; Sutter Christian; Groebner Susanne; Grund Kerstin B.; Brugieres Laurence; Jones David T. W.; Pajtler Kristian W.; Morrissy A. Sorana; Kool Marcel; Sturm Dominik; Chavez Lukas; Ernst Aurelie; Brabetz Sebastian; Hain Michael; Zichner Thomas; Segura-Wang Maia; Weischenfeldt Joachim; Rausch Tobias; Mardin Balca R.; Zhou Xin; Baciu Cristina; Lawerenz Christian; Chan Jennifer A.; Varlet Pascale; Guerrini-Rousseau Lea; Fults Daniel W.; Grajkowska Wieslawa; Hauser Peter; Jabado Nada; Ra Young-Shin; Zitterbart Karel; Shringarpure Suyash S.; De La Vega Francisco M.; Bustamante Carlos D.; Ng Ho-Keung; Perry Arie; MacDonald Tobey J.; Driever Pablo Hernaiz; Bendel Anne E.; Bowers Daniel C.; McCowage Geoffrey; Chintagumpala Murali M.; Cohn Richard; Hassall Timothy; Fleischhack Gudrun; Eggen Tone; Wesenberg Finn; Feychting Maria; Lannering Birgitta; Schuz Joachim; Johansen Christoffer; Andersen Tina V.; Roosli Martin; Kuehni Claudia E.; Grotzer Michael; Kjaerheim Kristina; Monoranu Camelia M.; Archer Tenley C.; Duke Elizabeth; Pomeroy Scott L.; Shelagh Redmond; Frank Stephan; Sumerauer David; Scheurlen Wolfram; Ryzhova Marina V.; Milde Till; Kratz Christian P.; Samuel David; Zhang Jinghui; Solomon David A.; Marra Marco; Eils Roland; Bartram Claus R.; von Hoff Katja; Rutkowski Stefan; Ramaswamy Vijay; Gilbertson Richard J.; Korshunov Andrey; Taylor Michael D.; Lichter Peter; Malkin David; Gajjar Amar; Korbel Jan O.; Pfister Stefan M.

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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

机译：Medulloblastoma遗传易感性的光谱和患病率：临床试验队列中的回顾性遗传研究与前瞻性验证

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Background Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines.

机译：背景技术Medulloblastoma与罕见的遗传性癌症预感综合征有关; 然而，尚未确定共有Medulloblastoma预感基因并筛选基因咨询和对儿科患者的测试的准则。我们旨在评估和定义这些基因，为未来的筛查指南提供证据。

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《The lancet oncology》 |2018年第6期|共14页
作者
Waszak Sebastian M.; Northcott Paul A.; Buchhalter Ivo; Robinson Giles W.; Sutter Christian; Groebner Susanne; Grund Kerstin B.; Brugieres Laurence; Jones David T. W.; Pajtler Kristian W.; Morrissy A. Sorana; Kool Marcel; Sturm Dominik; Chavez Lukas; Ernst Aurelie; Brabetz Sebastian; Hain Michael; Zichner Thomas; Segura-Wang Maia; Weischenfeldt Joachim; Rausch Tobias; Mardin Balca R.; Zhou Xin; Baciu Cristina; Lawerenz Christian; Chan Jennifer A.; Varlet Pascale; Guerrini-Rousseau Lea; Fults Daniel W.; Grajkowska Wieslawa; Hauser Peter; Jabado Nada; Ra Young-Shin; Zitterbart Karel; Shringarpure Suyash S.; De La Vega Francisco M.; Bustamante Carlos D.; Ng Ho-Keung; Perry Arie; MacDonald Tobey J.; Driever Pablo Hernaiz; Bendel Anne E.; Bowers Daniel C.; McCowage Geoffrey; Chintagumpala Murali M.; Cohn Richard; Hassall Timothy; Fleischhack Gudrun; Eggen Tone; Wesenberg Finn; Feychting Maria; Lannering Birgitta; Schuz Joachim; Johansen Christoffer; Andersen Tina V.; Roosli Martin; Kuehni Claudia E.; Grotzer Michael; Kjaerheim Kristina; Monoranu Camelia M.; Archer Tenley C.; Duke Elizabeth; Pomeroy Scott L.; Shelagh Redmond; Frank Stephan; Sumerauer David; Scheurlen Wolfram; Ryzhova Marina V.; Milde Till; Kratz Christian P.; Samuel David; Zhang Jinghui; Solomon David A.; Marra Marco; Eils Roland; Bartram Claus R.; von Hoff Katja; Rutkowski Stefan; Ramaswamy Vijay; Gilbertson Richard J.; Korshunov Andrey; Taylor Michael D.; Lichter Peter; Malkin David; Gajjar Amar; Korbel Jan O.; Pfister Stefan M.;
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作者单位

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

German Canc Res Ctr German Canc Consortium DKTK Div Pediat Neurooncol Heidelberg Germany;

German Canc Res Ctr Div Theoret Bioinformat Heidelberg Germany;

St Jude Childrens Res Hosp Dept Oncol 332 N Lauderdale St Memphis TN 38105 USA;

Heidelberg Univ Inst Human Genet Heidelberg Germany;

German Canc Res Ctr German Canc Consortium DKTK Div Pediat Neurooncol Heidelberg Germany;

Heidelberg Univ Inst Human Genet Heidelberg Germany;

Gustave Roussy Canc Campus Dept Children &

Adolescents Oncol Villejuif France;

German Canc Res Ctr German Canc Consortium DKTK Div Pediat Neurooncol Heidelberg Germany;

Heidelberg Univ Hosp Dept Pediat Hematol &

Oncol Heidelberg Germany;

Univ Calgary Cumming Sch Med Dept Biochem &

Mol Biol Calgary AB Canada;

German Canc Res Ctr German Canc Consortium DKTK Div Pediat Neurooncol Heidelberg Germany;

Heidelberg Univ Hosp Dept Pediat Hematol &

Oncol Heidelberg Germany;

German Canc Res Ctr German Canc Consortium DKTK Div Pediat Neurooncol Heidelberg Germany;

German Canc Res Ctr Div Mol Genet Heidelberg Germany;

Heidelberg Univ Hosp Dept Pediat Hematol &

Oncol Heidelberg Germany;

German Canc Res Ctr Div Mol Genet Heidelberg Germany;

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

Biotech Res &

Innovat Ctr Copenhagen Denmark;

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

St Jude Childrens Res Hosp Dept Computat Biol 332 N Lauderdale St Memphis TN 38105 USA;

Toronto Gen Hosp Univ Hlth Network Toronto ON Canada;

German Canc Res Ctr Data Management Facil Heidelberg Germany;

Univ Calgary Dept Pathol &

Lab Med Dept Oncol Calgary AB Canada;

St Anne Hosp Dept Neuropathol Paris France;

Gustave Roussy Canc Campus Dept Children &

Adolescents Oncol Villejuif France;

Univ Utah Sch Med Dept Neurosurg Salt Lake City UT USA;

Childrens Mem Hlth Inst Dept Pathol Warsaw Poland;

Semmelweis Univ Dept Pediat 2 Budapest Hungary;

McGill Univ Dept Pediat Montreal PQ Canada;

Asan Med Ctr Dept Neurosurg Seoul South Korea;

Univ Hosp Brno Dept Paediat Oncol Brno Czech Republic;

Stanford Univ Dept Genet Sch Med Stanford CA 94305 USA;

Stanford Univ Dept Genet Sch Med Stanford CA 94305 USA;

Stanford Univ Dept Genet Sch Med Stanford CA 94305 USA;

Chinese Univ Hong Kong Dept Anat &

Cellular Pathol Hong Kong Hong Kong Peoples R China;

Univ Calif San Francisco Dept Pathol Div Neuropathol San Francisco CA 94140 USA;

Emory Univ Sch Med Dept Pediat Aflac Canc &

Blood Disorders Ctr Atlanta GA USA;

Charite Univ Med Berlin Klin Padiatrie mS Onkol &

Hamatol Berlin Germany;

Childrens Hosp &

Clin Minnesota Dept Pediat Hematol &

Oncol Minneapolis MN USA;

Univ Texas Southwestern Med Ctr Dallas Div Pediat Hematol Oncol Dallas TX 75390 USA;

Childrens Hosp Westmead Dept Paediat Oncol Sydney NSW Australia;

Texas Childrens Hosp Dept Pediat Hematol &

Oncol Houston TX 77030 USA;

Sydney Childrens Hosp Dept Paediat Oncol Sydney NSW Australia;

Lady Cilento Childrens Hosp Dept Paediat Oncol South Brisbane Qld Australia;

Univ Hosp Essen Pediat Oncol &

Hematol Pediat 3 Essen Germany;

Canc Registry Norway Oslo Norway;

Oslo Univ Hosp Dept Pediat Med Oslo Norway;

Karolinska Inst Inst Environm Med Stockholm Sweden;

Univ Gothenburg Dept Pediat Queen Silvia Childrens Hosp Gothenburg Sweden;

Int Agcy Res Canc Sect Environm &

Radiat Lyon France;

Univ Copenhagen Rigshosp Oncol Clin Finsen Ctr Copenhagen Denmark;

Swiss Trop &

Publ Hlth Inst Dept Epidemiol &

Publ Hlth Basel Switzerland;

Univ Bern Swiss Childhood Canc Registry Inst Social &

Prevent Med Bern Switzerland;

Univ Zurich Dept Pediat Oncol Univ Childrens Hosp Zurich Zurich Switzerland;

Canc Registry Norway Oslo Norway;

Comprehens Canc Ctr Mainfranken Wurzburg Germany;

Broad Inst Harvard &

Massachusetts Inst Technol Cambridge MA USA;

Boston Childrens Hosp Dept Neurol Boston MA USA;

Broad Inst Harvard &

Massachusetts Inst Technol Cambridge MA USA;

Univ Bern Swiss Childhood Canc Registry Inst Social &

Prevent Med Bern Switzerland;

Univ Hosp Basel Inst Neuropathol Basel Switzerland;

Charles Univ Prague Dept Pediat Hematol &

Oncol Fac Med 2 Univ Hosp Motol Prague Czech Republic;

Cnopfsche Kinderklin Nurnberg Germany;

Burdenko Neurosurg Inst Dept Neuropathol Moscow Russia;

Heidelberg Univ Hosp Dept Pediat Hematol &

Oncol Heidelberg Germany;

Hannover Med Sch Pediat Hematol &

Oncol Hannover Germany;

Valley Childrens Hosp Madera CA USA;

St Jude Childrens Res Hosp Dept Computat Biol 332 N Lauderdale St Memphis TN 38105 USA;

Univ Calif San Francisco Dept Pathol Div Neuropathol San Francisco CA 94140 USA;

BC Canc Agcy Michael Smith Genome Sci Ctr Vancouver BC Canada;

German Canc Res Ctr Div Theoret Bioinformat Heidelberg Germany;

Heidelberg Univ Inst Human Genet Heidelberg Germany;

Univ Med Ctr Hamburg Eppendorf Dept Pediat Hematol &

Oncol Hamburg Germany;

Univ Med Ctr Hamburg Eppendorf Dept Pediat Hematol &

Oncol Hamburg Germany;

Hosp Sick Children Div Haematol Oncol Toronto ON Canada;

Univ Cambridge Dept Oncol Cambridge England;

Heidelberg Univ Hosp Dept Neuropathol Heidelberg Germany;

Hosp Sick Children Div Neurosurg Toronto ON Canada;

German Canc Res Ctr German Canc Consortium DKTK Div Mol Genet Heidelberg Germany;

Hosp Sick Children Div Haematol Oncol Toronto ON Canada;

St Jude Childrens Res Hosp Dept Oncol 332 N Lauderdale St Memphis TN 38105 USA;

European Mol Biol Lab Genome Biol Unit Heidelberg Germany;

Heidelberg Univ Hosp Dept Pediat Hematol &

Oncol Heidelberg Germany;

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1. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort [J] . Waszak Sebastian M., Northcott Paul A., Buchhalter Ivo, The lancet oncology . 2018,第6期

机译：Medulloblastoma遗传易感性的光谱和患病率：临床试验队列中的回顾性遗传研究与前瞻性验证
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4. Association of APOE and other genetic polymorphisms with prospective concussion risk in a prospective cohort study of college athletes [C] . Terrell Thomas R., Bostick Roberd, Rogers Gary L., 2014 Biomedical Sciences and Engineering Conference . 2014

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6. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort [O] . Sebastian M Waszak, Paul A Northcott, Ivo Buchhalter, -1

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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

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