Targeted next generation sequencing screening of Lynch syndrome in Tunisian population
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H. Morreau | T. van Wezel | M. Gribaa | A. Saâd | O. Hellara | S. Ben Ahmed | A. Jansen | Ahlem Bdioui | M. Azzouz | L. Ben Fatma | Fahmi Hmila | M. Ksiaa | K. Skandrani | R. Ben Sghaier | Rached Ltaief | Amine Elghali | Lamia Elgolli | Fathi Darbel | Moncef Mokkni | Ameni Gdissa | S. ben Ahmed
[1] P. Goodfellow,et al. Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer , 2018, JAMA oncology.
[2] S. Gruber,et al. Germline Genetic Features of Young Individuals With Colorectal Cancer. , 2017, Gastroenterology.
[3] M. Hsairi,et al. Colorectal Cancer Incidence Trend and Projections in Tunisia (1994 - 2024) , 2017, Asian Pacific journal of cancer prevention : APJCP.
[4] J. Lindebjerg,et al. Colorectal cancer mortality 10 years after a single round of guaiac faecal occult blood test (gFOBT) screening: experiences from a Danish screening cohort , 2016, BMJ open gastroenterology.
[5] Cathy H. Wu,et al. UniProt: the universal protein knowledgebase , 2016, Nucleic Acids Research.
[6] P. Devilee,et al. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers , 2015, European Journal of Human Genetics.
[7] H. Morreau,et al. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer , 2014, European Journal of Human Genetics.
[8] E. Kuipers,et al. Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers , 2014, The Journal of pathology.
[9] M. Speicher,et al. Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X , 2014, Nature Communications.
[10] Aung Ko Win,et al. Characterisation of Familial Colorectal Cancer Type X, Lynch syndrome, and non-familial colorectal cancer , 2014, British Journal of Cancer.
[11] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[12] I. Nagtegaal,et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. , 2014, Gastroenterology.
[13] I. Tomlinson,et al. Replicative DNA polymerase mutations in cancer☆ , 2014, Current opinion in genetics & development.
[14] Ian Tomlinson,et al. Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers , 2013, The Journal of pathology.
[15] H. Morreau,et al. Assessment of a fully automated high-throughput DNA extraction method from formalin-fixed, paraffin-embedded tissue for KRAS, and BRAF somatic mutation analysis. , 2013, Experimental and molecular pathology.
[16] Peter Donnelly,et al. Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas , 2012, Nature Genetics.
[17] M. Gribaa,et al. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect , 2012, Clinical genetics.
[18] N. Kourda,et al. Lynch syndrome in Tunisia: first description of clinical features and germline mutations , 2011, International Journal of Colorectal Disease.
[19] J. Balmaña,et al. Familial colorectal cancer risk: ESMO Clinical Practice Guidelines. , 2010, Annals of oncology : official journal of the European Society for Medical Oncology.
[20] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[21] N. de Wind,et al. A cell‐free assay for the functional analysis of variants of the mismatch repair protein MLH1 , 2010, Human mutation.
[22] Suet Yi Leung,et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 , 2009, Nature Genetics.
[23] C. Ishioka,et al. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. , 2007, Cancer research.
[24] H. Brunner,et al. Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer , 2007, British Journal of Cancer.
[25] J. Potter,et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. , 2005, JAMA.
[26] P. Peltomäki,et al. HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1 , 2004, Genes, chromosomes & cancer.
[27] H. Meijers-Heijboer,et al. Microsatellite Instability, Immunohistochemistry, and Additional PMS2 Staining in Suspected Hereditary Nonpolyposis Colorectal Cancer , 2004, Clinical Cancer Research.
[28] Cathy H. Wu,et al. UniProt: the Universal Protein knowledgebase , 2004, Nucleic Acids Res..
[29] A. Ellison,et al. Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. , 2004, Nucleic acids research.
[30] P. Peltomäki,et al. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. , 2001, Human molecular genetics.
[31] T. Smyrk,et al. Hereditary colorectal cancer. , 1999, Seminars in oncology.
[32] J. Herman,et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[33] Peter Beighton,et al. de la Chapelle, A. , 1997 .
[34] R. Fleischmann,et al. Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer , 1994, Nature.
[35] Robin J. Leach,et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer , 1993, Cell.