排序方式: 共有5条查询结果,搜索用时 156 毫秒
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Jinhan Xie MPharm PhD Amit Kumar PhD M. Emmy M. Dolman PhD Chelsea Mayoh BSc Dong-Anh Khuong-Quang MD PhD Roxanne Cadiz BSc Marie Wong-Erasmus PhD Emily V. A. Mould PhD Dylan Grebert-Wade BSc Paulette Barahona PhD Alvin Kamili BMedSc PhD Maria Tsoli PhD Timothy W. Failes PhD Shu-Oi Chow BSc Greg M. Arndt BSc PhD Kanika Bhatia MD Glenn M. Marshall AM MB BS MD FRACP David S. Ziegler MBBS BSc FRACP MD Michelle Haber AM PhD Hon DSc FAHMS Richard B. Lock BSc PhD Vanessa Tyrrell BAppSc MHGSA FHGSA MBA CSA ARCPA Loretta Lau MBBS MMed PhD FRACP Penny Athanasatos BAppSc CT CF Andrew J. Gifford BSc Hons PhD MBBS FRCPA 《Cancer cytopathology》2021,129(10):805-818
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Brittany C. McGill PhD MPsych Claire E. Wakefield PhD MPH Katherine M. Tucker MD Rebecca A. Daly MAP Mark W. Donoghoe PhD Janine Vetsch PhD Meera Warby MGC Noemi A. Fuentes-Bolanos MD PhD Kristine Barlow-Stewart PhD Judy Kirk MD Eliza Courtney MGC Tracey A. O’Brien MD MBA MHL Glenn M. Marshall MD Mark Pinese PhD Mark J. Cowley PhD Vanessa Tyrrell BAppSc MBA FHGSA ARCPA Rebecca J. Deyell MD MHSc David S. Ziegler MBBS MD Kate Hetherington MPsych PhD 《Cancer》2023,129(22):3620-3632
Background
Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child’s and family’s future cancer risk. Understanding parents’ perspectives of germline genome sequencing is critical to successful clinical implementation.Methods
A total of 182 parents of 144 children (<18 years of age) with poor-prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child’s results, including clinically relevant germline findings (received by 13% of parents). Parents’ expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty-five parents (of 43 children) were interviewed in depth.Results
At trial enrollment, most parents (63%) believed it was at least “somewhat likely” that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child’s genome sequencing results by their child’s clinician.Conclusions
Many parents of children with poor-prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results. 相似文献3.
Vehicle refuelling,use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case–control study 下载免费PDF全文
Kathryn R. Greenop PhD Andrea L. Hinwood PhD Lin Fritschi MBBS PhD FAFPHM Rodney J. Scott PhD PrivDoz MRCPath FHGSA FRCPath John Attia MD PhD FRCPC FRACP Lesley J. Ashton MPH PhD John A. Heath MBBS MS PhD FRACP Bruce K. Armstrong DPhil FRACP FAFPHM Elizabeth Milne MPH PhD 《Pediatric blood & cancer》2015,62(2):229-234
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Wui-Kwan Wong MD BScHons Christopher Troedson MBBS Markus Damme PhD Robert Goetti MD Suzanna E.L. Temple MBBS PhD MBA BSc Ludger Schöls MD Ghassan Balousha PhD MD Kristina Prelog MBBS Michael Buckley MBChB BHB PhD MHGSA FHGSA FRCPA FRCPath FFSc Tony Roscioli PhD MBBS FRACP FRACPath Holger Hengel MD Shekeeb S. Mohammad MD FRACP PhD 《Movement disorders》2022,37(4):870-872
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Patrick Yap MBChB MSc FRACP Leanne Super MBBS FRACP Jinyi Qin MBBS MSc PhD Trent Burgess BSc FHGSA Zdenka Prodanovic GradDipLabMed Caitlin Edwards BSc FHGSA Rosemary Thomas RN Karen Carpenter BSc PhD FHGSA Tiong Yang Tan MBBS FRACP PhD 《Pediatric blood & cancer》2016,63(4):706-708
Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of NF1 due to loss of heterozygosity. Pediatric teratoma has not been reported in individuals with NF1 previously. We report a case of congenital teratoma in an infant with a heterozygous maternally inherited pathogenic NF1 mutation (c.[1756_1759delACTA] and p.[Thr586Valfs*18]). We detected a “second hit” in the form of mosaic whole NF1 deletion in the tumor tissue using multiplex ligation‐dependent probe amplification, as a proof to support the hypothesis of NF1 involvement in the pathogenesis of teratoma. 相似文献
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