Literature DB >> 18496770

The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome.

J Tinat1, S Baert-Desurmont, J B Latouche, S Vasseur, C Martin, E Bouvignies, T Frébourg.   

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Year:  2008        PMID： 18496770     DOI： 10.1007/s10689-008-9196-6

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


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  14 in total

1.  Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Authors:  Federica Casilli; Zorika Christiana Di Rocco; Sophie Gad; Isabelle Tournier; Dominique Stoppa-Lyonnet; Thierry Frebourg; Mario Tosi
Journal:  Hum Mutat       Date:  2002-09       Impact factor: 4.878

2.  APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Authors:  Anne Rovelet-Lecrux; Didier Hannequin; Gregory Raux; Nathalie Le Meur; Annie Laquerrière; Anne Vital; Cécile Dumanchin; Sébastien Feuillette; Alexis Brice; Martine Vercelletto; Frédéric Dubas; Thierry Frebourg; Dominique Campion
Journal:  Nat Genet       Date:  2005-12-20       Impact factor: 38.330

3.  The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.

Authors:  Françoise Charbonnier; Stephanie Baert-Desurmont; Ping Liang; Frederic Di Fiore; Cosette Martin; Stephanie Frerot; Sylviane Olschwang; Qing Wang; Marie-Pierre Buisine; Brigitte Gilbert; Mef Nilbert; Annika Lindblom; Thierry Frebourg
Journal:  Hum Mutat       Date:  2005-09       Impact factor: 4.878

4.  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

5.  Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer.

Authors:  M C Curia; R Palmirotta; G Aceto; L Messerini; M C Verì; S Crognale; R Valanzano; F Ficari; P Fracasso; V Stigliano; F Tonelli; V Casale; F Guadagni; P Battista; R Mariani-Costantini; A Cama
Journal:  Cancer Res       Date:  1999-08-01       Impact factor: 12.701

6.  New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

Authors:  H F Vasen; P Watson; J P Mecklin; H T Lynch
Journal:  Gastroenterology       Date:  1999-06       Impact factor: 22.682

7.  Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

Authors:  A Viel; M Genuardi; E Capozzi; F Leonardi; A Bellacosa; M Paravatou-Petsotas; M G Pomponi; M Fornasarig; A Percesepe; L Roncucci; M G Tamassia; P Benatti; M Ponz de Leon; A Valenti; M Covino; M Anti; M Foletto; M Boiocchi; G Neri
Journal:  Genes Chromosomes Cancer       Date:  1997-01       Impact factor: 5.006

8.  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

9.  Evidence that a mutation in the MLH1 3'-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia.

Authors:  Guogen Mao; Xiaoyu Pan; Liya Gu
Journal:  J Biol Chem       Date:  2007-12-04       Impact factor: 5.157

10.  Significant contribution of germline BRCA2 rearrangements in male breast cancer families.

Authors:  Isabelle Tournier; Brigitte Bressac-de Paillerets; Hagay Sobol; Dominique Stoppa-Lyonnet; Rosette Lidereau; Michel Barrois; Sylvie Mazoyer; Florence Coulet; Agnès Hardouin; Agnès Chompret; Alain Lortholary; Pierre Chappuis; Violaine Bourdon; Valérie Bonadona; Christine Maugard; Brigitte Gilbert; Catherine Nogues; Thierry Frébourg; Mario Tosi
Journal:  Cancer Res       Date:  2004-11-15       Impact factor: 12.701
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  1 in total

1.  Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.

Authors:  Fulan Hu; Dandan Li; Yibaina Wang; Xiaoping Yao; Wencui Zhang; Jing Liang; Chunqing Lin; Jiaojiao Ren; Lin Zhu; Zhiwei Wu; Shuying Li; Ye Li; Xiaojuan Zhao; Binbin Cui; Xinshu Dong; Suli Tian; Yashuang Zhao
Journal:  PLoS One       Date:  2013-04-03       Impact factor: 3.240
  1 in total

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