Literature DB >> 12549480

Early onset brain tumor and lymphoma in MSH2-deficient children.

Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M Ruchoux, Nathalie Drouot, Thierry Frébourg.   

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Year:  2003        PMID： 12549480      PMCID： PMC378628          DOI： 10.1086/345297

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  Association of p53 and MSH2 with recombinative repair complexes during S phase.

Authors:  Daniele Zink; Christoph Mayr; Christine Janz; Lisa Wiesmüller
Journal:  Oncogene       Date:  2002-07-18       Impact factor: 9.867

2.  Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.

Authors:  F Charbonnier; G Raux; Q Wang; N Drouot; F Cordier; J M Limacher; J C Saurin; A Puisieux; S Olschwang; T Frebourg
Journal:  Cancer Res       Date:  2000-06-01       Impact factor: 12.701

Review 3.  Brain tumor-polyposis syndrome: two genetic diseases?

Authors:  F Paraf; S Jothy; E G Van Meir
Journal:  J Clin Oncol       Date:  1997-07       Impact factor: 44.544

4.  Extensive somatic microsatellite mutations in normal human tissue.

Authors:  S Vilkki; J L Tsao; A Loukola; M Pöyhönen; O Vierimaa; R Herva; L A Aaltonen; D Shibata
Journal:  Cancer Res       Date:  2001-06-01       Impact factor: 12.701

5.  MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Authors:  Françoise Charbonnier; Sylviane Olschwang; Qing Wang; Cécile Boisson; Cosette Martin; Marie-Pierre Buisine; Alain Puisieux; Thierry Frebourg
Journal:  Cancer Res       Date:  2002-02-01       Impact factor: 12.701

Review 6.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.

Authors:  C R Boland; S N Thibodeau; S R Hamilton; D Sidransky; J R Eshleman; R W Burt; S J Meltzer; M A Rodriguez-Bigas; R Fodde; G N Ranzani; S Srivastava
Journal:  Cancer Res       Date:  1998-11-15       Impact factor: 12.701

Review 7.  Mismatch repair in replication fidelity, genetic recombination, and cancer biology.

Authors:  P Modrich; R Lahue
Journal:  Annu Rev Biochem       Date:  1996       Impact factor: 23.643

8.  Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Authors:  Q Wang; C Lasset; F Desseigne; D Frappaz; C Bergeron; C Navarro; E Ruano; A Puisieux
Journal:  Cancer Res       Date:  1999-01-15       Impact factor: 12.701

9.  Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Authors:  M D Ricciardone; T Ozçelik; B Cevher; H Ozdağ; M Tuncer; A Gürgey; O Uzunalimoğlu; H Cetinkaya; A Tanyeli; E Erken; M Oztürk
Journal:  Cancer Res       Date:  1999-01-15       Impact factor: 12.701

10.  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
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  18 in total

1.  Constitutional mismatch repair-deficiency syndrome.

Authors:  Katharina Wimmer; Christian P Kratz
Journal:  Haematologica       Date:  2010-05       Impact factor: 9.941

2.  Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

Authors:  Julia Taeubner; Katharina Wimmer; Martine Muleris; Olivier Lascols; Chrystelle Colas; Christine Fauth; Triantafyllia Brozou; Joerg Felsberg; Jasmin Riemer; Michael Gombert; Sebastian Ginzel; Jessica I Hoell; Arndt Borkhardt; Michaela Kuhlen
Journal:  Eur J Hum Genet       Date:  2018-01-04       Impact factor: 4.246

Review 3.  Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations.

Authors:  Prathap Bandipalliam
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

4.  Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

Authors:  Carolien M Kets; Nicoline Hoogerbrugge; Joannes H J M van Krieken; Monique Goossens; Han G Brunner; Marjolijn J L Ligtenberg
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

5.  Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics.

Authors:  J Barwell; L Pangon; S Hodgson; A Georgiou; I Kesterton; T Slade; M Taylor; S J Payne; H Brinkman; J Smythe; N J Sebire; E Solomon; Z Docherty; R Camplejohn; T Homfray; J R Morris
Journal:  J Med Genet       Date:  2007-05-04       Impact factor: 6.318

Review 6.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

7.  A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Authors:  Fred H Menko; Gertjan L Kaspers; Gerrit A Meijer; Kathleen Claes; Johanna M van Hagen; Johan J P Gille
Journal:  Fam Cancer       Date:  2004       Impact factor: 2.375

8.  Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes.

Authors:  Susanne Magnusson; Ake Borg; Ulf Kristoffersson; Mef Nilbert; Thomas Wiebe; Håkan Olsson
Journal:  Fam Cancer       Date:  2008-05-15       Impact factor: 2.375

9.  Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

Authors:  Helen Toledano; Yael Goldberg; Inbal Kedar-Barnes; Hagit Baris; Rinnat M Porat; Chen Shochat; Dani Bercovich; Eli Pikarsky; Israela Lerer; Isaac Yaniv; Dvorah Abeliovich; Tamar Peretz
Journal:  Fam Cancer       Date:  2008-12-20       Impact factor: 2.375

10.  Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.

Authors:  Rein P Stulp; Johanna C Herkert; Arend Karrenbeld; Bart Mol; Yvonne J Vos; Rolf H Sijmons
Journal:  Hered Cancer Clin Pract       Date:  2008-02-15       Impact factor: 2.857
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