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Literature DB >> 27401157

Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors.

Francesca Duraturo¹, Raffaella Liccardo², Paola Izzo².

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2016 PMID： 27401157 DOI： 10.1007/s11060-016-2203-0

Source DB: PubMed Journal: J Neurooncol ISSN： 0167-594X Impact factor: 4.130

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3 in total

1. Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.

Authors: Francesca Duraturo; Raffaella Liccardo; Angela Cavallo; Marina De Rosa; Giovanni Battista Rossi; Paola Izzo
Journal: Int J Mol Med Date: 2015-06-19 Impact factor: 4.101

2. Genetic and epigenetic characterization of low-grade gliomas reveals frequent methylation of the MLH3 gene.

Authors: Halka Lhotska; Zuzana Zemanova; Hana Cechova; Sarka Ransdorfova; Libuse Lizcova; Filip Kramar; Zdenek Krejcik; Karla Svobodova; Dagmar Bystricka; Petr Hrabal; Alena Dohnalova; Kyra Michalova
Journal: Genes Chromosomes Cancer Date: 2015-08-25 Impact factor: 5.006

3. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.

Authors: Ricardo Mouro Pinto; Ella Dragileva; Andrew Kirby; Alejandro Lloret; Edith Lopez; Jason St Claire; Gagan B Panigrahi; Caixia Hou; Kim Holloway; Tammy Gillis; Jolene R Guide; Paula E Cohen; Guo-Min Li; Christopher E Pearson; Mark J Daly; Vanessa C Wheeler
Journal: PLoS Genet Date: 2013-10-31 Impact factor: 5.917

3 in total

8 in total

8. Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation.

Authors: Raffaella Liccardo; Marina De Rosa; Francesca Duraturo
Journal: Clin Med Insights Case Rep Date: 2018-01-23

8 in total

Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors.

1. Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.

2. Genetic and epigenetic characterization of low-grade gliomas reveals frequent methylation of the MLH3 gene.

3. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.

Review 1. Genetic intersection of male infertility and cancer.

2. Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

Review 3. Novel Implications in Molecular Diagnosis of Lynch Syndrome.

4. Novel MSH2 splice-site mutation in a young patient with Lynch syndrome.

5. Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.

6. A Hereditable Mutation of MSH2 Gene Associated with Lynch Syndrome in a Five Generation Chinese Family.

7. Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

8. Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation.