Literature DB >> 26902849

Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.

Cassie N Kline1, Nancy M Joseph1, James P Grenert1, Jessica van Ziffle1, Iwei Yeh1, Boris C Bastian1, Sabine Mueller1, David A Solomon1.   

Abstract

Entities:  

Keywords:  ACVR1; MUTYH; Turcot syndrome; familial adenomatous polyposis syndrome type 2; glioma; medulloblastoma; tumor predisposition syndrome

Mesh：

Substances：

Year:  2016        PMID： 26902849      PMCID： PMC4827050          DOI： 10.1093/neuonc/now013

Source DB:  PubMed          Journal:  Neuro Oncol        ISSN： 1522-8517            Impact factor:   12.300


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  9 in total

1.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

2.  Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Authors:  Oliver M Sieber; Lara Lipton; Michael Crabtree; Karl Heinimann; Paulo Fidalgo; Robin K S Phillips; Marie-Luise Bisgaard; Torben F Orntoft; Lauri A Aaltonen; Shirley V Hodgson; Huw J W Thomas; Ian P M Tomlinson
Journal:  N Engl J Med       Date:  2003-02-27       Impact factor: 91.245

3.  Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Authors:  Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D Gareth Evans; Ian Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle
Journal:  Lancet       Date:  2003-07-05       Impact factor: 79.321

4.  Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.

Authors:  J P McGoldrick; Y C Yeh; M Solomon; J M Essigmann; A L Lu
Journal:  Mol Cell Biol       Date:  1995-02       Impact factor: 4.272

5.  The molecular basis of Turcot's syndrome.

Authors:  S R Hamilton; B Liu; R E Parsons; N Papadopoulos; J Jen; S M Powell; A J Krush; T Berk; Z Cohen; B Tetu
Journal:  N Engl J Med       Date:  1995-03-30       Impact factor: 91.245

6.  Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Authors:  Siân Jones; Paul Emmerson; Julie Maynard; Jacqueline M Best; Sheila Jordan; Geraint T Williams; Julian R Sampson; Jeremy P Cheadle
Journal:  Hum Mol Genet       Date:  2002-11-01       Impact factor: 6.150

7.  Germline Mutations in Predisposition Genes in Pediatric Cancer.

Authors:  Jinghui Zhang; Michael F Walsh; Gang Wu; Kim E Nichols; Michael N Edmonson; Tanja A Gruber; John Easton; Dale Hedges; Xiaotu Ma; Xin Zhou; Donald A Yergeau; Mark R Wilkinson; Bhavin Vadodaria; Xiang Chen; Rose B McGee; Stacy Hines-Dowell; Regina Nuccio; Emily Quinn; Sheila A Shurtleff; Michael Rusch; Aman Patel; Jared B Becksfort; Shuoguo Wang; Meaghann S Weaver; Li Ding; Elaine R Mardis; Richard K Wilson; Amar Gajjar; David W Ellison; Alberto S Pappo; Ching-Hon Pui; James R Downing
Journal:  N Engl J Med       Date:  2015-11-18       Impact factor: 91.245

8.  The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Authors:  Gang Wu; Alexander K Diaz; Barbara S Paugh; Sherri L Rankin; Bensheng Ju; Yongjin Li; Xiaoyan Zhu; Chunxu Qu; Xiang Chen; Junyuan Zhang; John Easton; Michael Edmonson; Xiaotu Ma; Charles Lu; Panduka Nagahawatte; Erin Hedlund; Michael Rusch; Stanley Pounds; Tong Lin; Arzu Onar-Thomas; Robert Huether; Richard Kriwacki; Matthew Parker; Pankaj Gupta; Jared Becksfort; Lei Wei; Heather L Mulder; Kristy Boggs; Bhavin Vadodaria; Donald Yergeau; Jake C Russell; Kerri Ochoa; Robert S Fulton; Lucinda L Fulton; Chris Jones; Frederick A Boop; Alberto Broniscer; Cynthia Wetmore; Amar Gajjar; Li Ding; Elaine R Mardis; Richard K Wilson; Michael R Taylor; James R Downing; David W Ellison; Jinghui Zhang; Suzanne J Baker
Journal:  Nat Genet       Date:  2014-04-06       Impact factor: 38.330

9.  Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Authors:  Kathryn R Taylor; Alan Mackay; Nathalène Truffaux; Yaron Butterfield; Olena Morozova; Cathy Philippe; David Castel; Catherine S Grasso; Maria Vinci; Diana Carvalho; Angel M Carcaboso; Carmen de Torres; Ofelia Cruz; Jaume Mora; Natacha Entz-Werle; Wendy J Ingram; Michelle Monje; Darren Hargrave; Alex N Bullock; Stéphanie Puget; Stephen Yip; Chris Jones; Jacques Grill
Journal:  Nat Genet       Date:  2014-04-06       Impact factor: 38.330
  9 in total
  10 in total

1.  Disseminated pilomyxoid astrocytoma in infancy with novel MUTYH mutation.

Authors:  Yasmin Aghajan; Michael L Levy; Robert O Newbury; John Ross Crawford
Journal:  BMJ Case Rep       Date:  2016-10-26

2.  Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.

Authors:  Cassie N Kline; Nancy M Joseph; James P Grenert; Jessica van Ziffle; Eric Talevich; Courtney Onodera; Mariam Aboian; Soonmee Cha; David R Raleigh; Steve Braunstein; Joseph Torkildson; David Samuel; Michelle Bloomer; Alejandra G de Alba Campomanes; Anuradha Banerjee; Nicholas Butowski; Corey Raffel; Tarik Tihan; Andrew W Bollen; Joanna J Phillips; W Michael Korn; Iwei Yeh; Boris C Bastian; Nalin Gupta; Sabine Mueller; Arie Perry; Theodore Nicolaides; David A Solomon
Journal:  Neuro Oncol       Date:  2017-05-01       Impact factor: 12.300

Review 3.  Germline genetic landscape of pediatric central nervous system tumors.

Authors:  Ivo S Muskens; Chenan Zhang; Adam J de Smith; Jaclyn A Biegel; Kyle M Walsh; Joseph L Wiemels
Journal:  Neuro Oncol       Date:  2019-11-04       Impact factor: 12.300

4.  Intratumor and informatic heterogeneity influence meningioma molecular classification.

Authors:  Abrar Choudhury; Stephanie Hilz; Stephen T Magill; David R Raleigh; Harish N Vasudevan; Javier E Villanueva-Meyer; William C Chen; Calixto-Hope G Lucas; Steve E Braunstein; Nancy Ann Oberheim Bush; Nicholas Butowski; Melike Pekmezci; Michael W McDermott; Arie Perry; David A Solomon
Journal:  Acta Neuropathol       Date:  2022-06-27       Impact factor: 15.887

5.  Atypical central neurocytoma with novel EWSR1-ATF1 fusion and MUTYH mutation detected by next-generation sequencing.

Authors:  Yasmin Aghajan; Denise M Malicki; Michael L Levy; John Ross Crawford
Journal:  BMJ Case Rep       Date:  2019-01-14

6.  Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.

Authors:  M-M Georgescu; M Z Islam; Y Li; M L Circu; J Traylor; C M Notarianni; C N Kline; D K Burns
Journal:  Acta Neuropathol Commun       Date:  2020-07-17       Impact factor: 7.801

7.  Mutation-based clustering and classification analysis reveals distinctive age groups and age-related biomarkers for glioma.

Authors:  Claire Jean-Quartier; Fleur Jeanquartier; Aydin Ridvan; Matthias Kargl; Tica Mirza; Tobias Stangl; Robi Markaĉ; Mauro Jurada; Andreas Holzinger
Journal:  BMC Med Inform Decis Mak       Date:  2021-02-27       Impact factor: 2.796

8.  Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.

Authors:  Felicia Hernandez; Blair R Conner; Marcy E Richardson; Holly LaDuca; Elizabeth Chao; Tina Pesaran; Rachid Karam
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-01-10

9.  Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.

Authors:  Andrew Vanlallawma; Doris Lallawmzuali; Jeremy L Pautu; Vinod Scaria; Sridhar Sivasubbu; Nachimuthu Senthil Kumar
Journal:  BMC Genom Data       Date:  2022-03-28

10.  Germline MUTYH mutations and high-grade gliomas: Novel evidence for a potential association.

Authors:  Gábor Bedics; Lili Kotmayer; Erik Zajta; Lajos László Hegyi; Edit Ágota Brückner; Hajnalka Rajnai; Lilla Reiniger; Csaba Bödör; Miklós Garami; Bálint Scheich
Journal:  Genes Chromosomes Cancer       Date:  2022-05-21       Impact factor: 4.263
  10 in total

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