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MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa).
Colas C, Bonadona V, Baert-Desurmont S, Bonnet D, Coulet F, Dhooge M, Saurin JC, Remenieras A, Bignon YJ, Caron O, De Pauw A, Buisine MP, Buecher B. Colas C, et al. Among authors: saurin jc. Eur J Med Genet. 2020 Dec;63(12):104078. doi: 10.1016/j.ejmg.2020.104078. Epub 2020 Oct 12. Eur J Med Genet. 2020. PMID: 33059073 Review.
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. Lesca G, et al. Among authors: saurin jc. Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373. Genet Med. 2007. PMID: 17224686 Free article.
Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.
Auclair J, Vaissière T, Desseigne F, Lasset C, Bonadona V, Giraud S, Saurin JC, Joly MO, Leroux D, Faivre L, Audoynaud C, Montmain G, Ruano E, Herceg Z, Puisieux A, Wang Q. Auclair J, et al. Among authors: saurin jc. Genes Chromosomes Cancer. 2011 Mar;50(3):178-85. doi: 10.1002/gcc.20842. Epub 2010 Dec 9. Genes Chromosomes Cancer. 2011. PMID: 21213371
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Bonadona V, et al. Among authors: saurin jc. JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743. JAMA. 2011. PMID: 21642682
French experts report on MUTYH-associated polyposis (MAP).
Buecher B, Bonaïti C, Buisine MP, Colas C, Saurin JC. Buecher B, et al. Among authors: saurin jc. Fam Cancer. 2012 Sep;11(3):321-8. doi: 10.1007/s10689-012-9511-0. Fam Cancer. 2012. PMID: 22538434
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T. Baert-Desurmont S, et al. Among authors: saurin jc. Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15. Eur J Hum Genet. 2016. PMID: 25873010 Free PMC article.
Type 1 serrated polyposis represents a predominantly female disease with a high prevalence of dysplastic serrated adenomas, without germline mutation in MUTYH, APC, and PTEN genes.
Petronio M, Pinson S, Walter T, Joly MO, Hervieu V, Forestier J, Saurin JC. Petronio M, et al. Among authors: saurin jc. United European Gastroenterol J. 2016 Apr;4(2):305-13. doi: 10.1177/2050640615594939. Epub 2015 Jul 24. United European Gastroenterol J. 2016. PMID: 27087961 Free PMC article.
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.
El Hachem N, Abadie C, Longy M, Colas C, Fert-Ferrer S, Leroux D, Grandval P, Prieur F, Collonge-Rame M, Faivre L, Fricker JP, Zerbib F, Coupier I, Cauchin E, Pinson S, Saurin JC. El Hachem N, et al. Among authors: saurin jc. Dis Colon Rectum. 2019 Apr;62(4):470-475. doi: 10.1097/DCR.0000000000001323. Dis Colon Rectum. 2019. PMID: 30640315
245 results