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Items: 1 to 20 of 152

1.

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

Rausch T, Jones DT, Zapatka M, Stütz AM, Zichner T, Weischenfeldt J, Jäger N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, Bender S, Pleier S, Cin H, Hawkins C, Beck C, von Deimling A, Hans V, Brors B, Eils R, Scheurlen W, Blake J, Benes V, Kulozik AE, Witt O, Martin D, Zhang C, Porat R, Merino DM, Wasserman J, Jabado N, Fontebasso A, Bullinger L, Rücker FG, Döhner K, Döhner H, Koster J, Molenaar JJ, Versteeg R, Kool M, Tabori U, Malkin D, Korshunov A, Taylor MD, Lichter P, Pfister SM, Korbel JO.

Cell. 2012 Jan 20;148(1-2):59-71. doi: 10.1016/j.cell.2011.12.013.

2.

A cell-based model system links chromothripsis with hyperploidy.

Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO.

Mol Syst Biol. 2015 Sep 28;11(9):828. doi: 10.15252/msb.20156505.

3.

Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

Güran S, Tunca Y, Imirzalioğlu N.

Cancer Genet Cytogenet. 1999 Sep;113(2):145-51.

PMID:
10484981
4.

TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

Pfaff E, Remke M, Sturm D, Benner A, Witt H, Milde T, von Bueren AO, Wittmann A, Schöttler A, Jorch N, Graf N, Kulozik AE, Witt O, Scheurlen W, von Deimling A, Rutkowski S, Taylor MD, Tabori U, Lichter P, Korshunov A, Pfister SM.

J Clin Oncol. 2010 Dec 10;28(35):5188-96. doi: 10.1200/JCO.2010.31.1670.

PMID:
21060032
5.

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, Netto CB, Cossio SL, Roth DE, Brunetto AL, Zagonel-Oliveira M, Martel-Planche G, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P.

Cancer. 2013 Dec 15;119(24):4341-9. doi: 10.1002/cncr.28346.

6.

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Schlegelberger B, Kreipe H, Lehmann U, Steinemann D, Ripperger T, Göhring G, Thomay K, Rump A, Di Donato N, Suttorp M.

Pediatr Blood Cancer. 2015 Aug;62(8):1481-4. doi: 10.1002/pbc.25486.

PMID:
25787918
7.

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P.

Curr Opin Oncol. 2010 Jan;22(1):64-9. doi: 10.1097/CCO.0b013e328333bf00. Review.

PMID:
19952748
8.

TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.

Rücker FG, Schlenk RF, Bullinger L, Kayser S, Teleanu V, Kett H, Habdank M, Kugler CM, Holzmann K, Gaidzik VI, Paschka P, Held G, von Lilienfeld-Toal M, Lübbert M, Fröhling S, Zenz T, Krauter J, Schlegelberger B, Ganser A, Lichter P, Döhner K, Döhner H.

Blood. 2012 Mar 1;119(9):2114-21. doi: 10.1182/blood-2011-08-375758.

9.

Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S; Colon Cancer Family Registry..

JAMA Oncol. 2015 May;1(2):214-21.

10.

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ.

J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429.

PMID:
20522432
11.

Pathways to chromothripsis.

Ivkov R, Bunz F.

Cell Cycle. 2015;14(18):2886-90. doi: 10.1080/15384101.2015.1068483.

12.

Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes.

Svobodova K, Zemanova Z, Lhotska H, Novakova M, Podskalska L, Belickova M, Brezinova J, Sarova I, Izakova S, Lizcova L, Berkova A, Siskova M, Jonasova A, Cermak J, Michalova K.

Leuk Res. 2016 Mar;42:7-12. doi: 10.1016/j.leukres.2016.01.009.

PMID:
26851439
13.

Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.

Zerdoumi Y, Aury-Landas J, Bonaïti-Pellié C, Derambure C, Sesboüé R, Renaux-Petel M, Frebourg T, Bougeard G, Flaman JM.

Hum Mutat. 2013 Mar;34(3):453-61. doi: 10.1002/humu.22254.

PMID:
23172776
14.

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

Kloosterman WP, Hoogstraat M, Paling O, Tavakoli-Yaraki M, Renkens I, Vermaat JS, van Roosmalen MJ, van Lieshout S, Nijman IJ, Roessingh W, van 't Slot R, van de Belt J, Guryev V, Koudijs M, Voest E, Cuppen E.

Genome Biol. 2011 Oct 19;12(10):R103. doi: 10.1186/gb-2011-12-10-r103.

15.

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

de Pagter MS, Kloosterman WP.

Recent Results Cancer Res. 2015;200:165-93. doi: 10.1007/978-3-319-20291-4_8. Review.

PMID:
26376877
16.

Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome.

Sugawara W, Arai Y, Kasai F, Fujiwara Y, Haruta M, Hosaka R, Nishida K, Kurosumi M, Kobayashi Y, Akagi K, Kaneko Y.

Genes Chromosomes Cancer. 2011 Jul;50(7):535-45. doi: 10.1002/gcc.20878.

PMID:
21484931
17.

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.

Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF.

Pediatr Blood Cancer. 2013 Apr;60(4):570-4. doi: 10.1002/pbc.24316.

18.

Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system.

Morishita M, Muramatsu T, Suto Y, Hirai M, Konishi T, Hayashi S, Shigemizu D, Tsunoda T, Moriyama K, Inazawa J.

Oncotarget. 2016 Mar 1;7(9):10182-92. doi: 10.18632/oncotarget.7186.

19.

Distribution of TP53 mutations among acute leukemias with MLL rearrangements.

Lanza C, Gaidano G, Cimino G, Pastore C, Nomdedeu J, Volpe G, Vivenza C, Parvis G, Mazza U, Basso G, Madon E, Lo Coco F, Saglio G.

Genes Chromosomes Cancer. 1996 Jan;15(1):48-53.

PMID:
8824725
20.

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.

Giacomazzi J, Selistre S, Duarte J, Ribeiro JP, Vieira PJ, de Souza Macedo G, Rossi C, Czepielewski M, Netto CB, Hainaut P, Ashton-Prolla P.

BMC Cancer. 2013 Apr 9;13:187. doi: 10.1186/1471-2407-13-187.

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