Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

[1] Mauri G(2019)Early-onset colorectal cancer in young individuals Mol Oncol 13 109-131

[2] Sartore-Bianchi A(2018)Update on hereditary colorectal cancer: improving the clinical utility of multigene panel testing Clin Colorectal Cancer 17 e293-e305

[3] Russo AG(2018)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 11 1179547617753943-1508

[4] Marsoni S(2017)Gastrointestinal tract cancers: genetics, heritability and germ line mutations Oncol Lett 13 1499-82

[5] Bardelli A(2012)Identification of patients at risk for hereditary colorectal cancer Clin Colon Rectal Surg 25 67-424

[6] Siena S(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-13

[7] Lorans M(2017)Mismatch repair proteins and microsatellite instability in colorectal carcinoma (MLH1, MSH2, MSH6 and PMS2): histopathological and immunohistochemical study Open Access Maced J Med Sci 5 9-307

[8] Dow E(2013)Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion Biomed Res Int 2013 219897-1130

[9] Macrae FA(2013)Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch syndrome families PLoS ONE 8 e72195-414

[10] Winship IM(2008)Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing J Mol Diagn 10 301-502

[1] Mauri G(2019)Early-onset colorectal cancer in young individuals Mol Oncol 13 109-131

[2] Sartore-Bianchi A(2018)Update on hereditary colorectal cancer: improving the clinical utility of multigene panel testing Clin Colorectal Cancer 17 e293-e305

[3] Russo AG(2018)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 11 1179547617753943-1508

[4] Marsoni S(2017)Gastrointestinal tract cancers: genetics, heritability and germ line mutations Oncol Lett 13 1499-82

[5] Bardelli A(2012)Identification of patients at risk for hereditary colorectal cancer Clin Colon Rectal Surg 25 67-424

[6] Siena S(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-13

[7] Lorans M(2017)Mismatch repair proteins and microsatellite instability in colorectal carcinoma (MLH1, MSH2, MSH6 and PMS2): histopathological and immunohistochemical study Open Access Maced J Med Sci 5 9-307

[8] Dow E(2013)Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion Biomed Res Int 2013 219897-1130

[9] Macrae FA(2013)Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch syndrome families PLoS ONE 8 e72195-414

[10] Winship IM(2008)Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing J Mol Diagn 10 301-502