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Page 1
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: colas c. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.
[Clinical and molecular consequences of microsatellite instability in human cancers].
Hamelin R, Chalastanis A, Colas C, El Bchiri J, Mercier D, Schreurs AS, Simon V, Svrcek M, Zaanan A, Borie C, Buhard O, Capel E, Zouali H, Praz F, Muleris M, Fléjou JF, Duval A. Hamelin R, et al. Among authors: colas c. Bull Cancer. 2008 Jan;95(1):121-32. doi: 10.1684/bdc.2008.0571. Bull Cancer. 2008. PMID: 18230578 Review. French.
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T; French LFS working group. Bougeard G, et al. J Med Genet. 2008 Aug;45(8):535-8. doi: 10.1136/jmg.2008.057570. Epub 2008 May 29. J Med Genet. 2008. PMID: 18511570
The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms.
Borie C, Colas C, Dartigues P, Lazure T, Rince P, Buhard O, Folliot P, Chalastanis A, Muleris M, Hamelin R, Mercier D, Oliveira C, Seruca R, Chadburn A, Leblond V, Barete S, Gaïdano G, Martin A, Gaulard P, Fléjou JF, Raphael M, Duval A. Borie C, et al. Among authors: colas c. Int J Cancer. 2009 Nov 15;125(10):2360-6. doi: 10.1002/ijc.24681. Int J Cancer. 2009. PMID: 19551857
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE; Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO; Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON; Spurdle A, Chenevix-Trench G; kConFab; Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Wang X, et al. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. doi: 10.1093/hmg/ddq174. Epub 2010 Apr 23. Hum Mol Genet. 2010. PMID: 20418484 Free PMC article.
Methylation tolerance due to an O6-methylguanine DNA methyltransferase (MGMT) field defect in the colonic mucosa: an initiating step in the development of mismatch repair-deficient colorectal cancers.
Svrcek M, Buhard O, Colas C, Coulet F, Dumont S, Massaoudi I, Lamri A, Hamelin R, Cosnes J, Oliveira C, Seruca R, Gaub MP, Legrain M, Collura A, Lascols O, Tiret E, Fléjou JF, Duval A. Svrcek M, et al. Among authors: colas c. Gut. 2010 Nov;59(11):1516-26. doi: 10.1136/gut.2009.194787. Gut. 2010. PMID: 20947886
394 results