Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12967-019-1961-9.pdf
Reference59 articles.
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3. Liccardo R, De Rosa M, Duraturo F. Same MSH2 gene mutation but variable phenotypes in 2 families with lynch syndrome: two case reports and review of genotype-phenotype correlation. Clin Med Insights Case Rep. 2018;11:1179547617753943. https://doi.org/10.1177/1179547617753943 .
4. Lv XP. Gastrointestinal tract cancers: genetics, heritability and germ line mutations. Oncol Lett. 2017;13(3):1499–508. https://doi.org/10.3892/ol.2017.5629 .
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1. Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer‐predisposing genes in familial early‐onset colorectal cancer;The Kaohsiung Journal of Medical Sciences;2023-06-14
2. A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma;Genes;2022-07-28
3. CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma;Genes;2022-02-23
4. Correlation of MSH2 exonic deletions and protein downregulation with breast cancer biomarkers and outcome in Pakistani women/patients;Environmental Science and Pollution Research;2020-09-09
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