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| 1 | Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles显示文摘AIM:To evaluate the risk associated with variants of the UNC5C gene recently suspected to predispose to familial colorectal cancer(CRC).METHODS:We screened patients with familial CRC forms as well as patients with sporadic CRCs.In a first time,we analyzed exon 11 of the UNC5C gene in 120unrelated patients with suspected hereditary CRC,58patients with suspected Lynch-associated cancer or polyposis,and 132 index cases of Lynch syndrome families with a characterized mutation in a DNA mismatch repair(MMR).Next,1023 patients with sporadic CRC and1121 healthy individuals were screened for the variants identified in patients with familial cancer.RESULTS:Of 120 patients with familial CRC of unknown etiology,one carried the previously reported mis-sense mutation p.Arg603Cys(R603C)and another exhibited the unreported variant of unknown significance p.Thr617Ile(T617I).The p.Ala628Lys(A628K)mutation previously described as the main UNC5C risk variant for familial CRC was not detected in any cases of familial CRC of unknown etiology,but was present in a patient with familial gastric cancer and in two Lynch syndrome patients in co-occurrence with MMR mutations.A statistically non-significant increase in cancer risk was identified in familial CRC and/or other Lynchassociated cancers(1/178 patients vs 2/1121 healthy controls,OR=3.2,95%CI:0.29-35.05,P=0.348)and in sporadic CRCs(4/1023 patients vs 2/1121 healthy controls,OR=2.2,95%CI:0.40-12.02,P=0.364).CONCLUSION:We confirm that UNC5C mutations are very rare in familial and sporadic CRCs,but further investigations are needed to justify routine UNC5C testing for diagnostic purposes. | Sébastien Küry Céline Garrec Fabrice Airaud Flora Breheret Virginie Guibert Cécile Frenard Shuo Jiao Dominique Bonneau Pascaline Berthet Céline Bossard Olivier Ingster Estelle Cauchin Stéphane Bezieau | 2014 | World Journal of Gastroenterology2014，20，1： | 4 |
| 2 | HCCI Engine Modeling and Experimental Investigation-Part 1: The Reduction, Composition and Validation of a N- heptane/Iso-octane Mechanism显示文摘 | MacHrafi H Guibert P Cavadias S | 2007 | Combustion Science and Technology2007，179，12： | 1 |
| 3 | Soluble HLA - G moleculesincrease during acute leukemia, especially in subtypes affecting monocytie and lymphoid lineages 显示文摘 | Gros F Sebti Y de Guibert S | 2006 | Neoplasia2006，8，3： | 1 |
| 4 | Rituximab combined with chemotherapy and interferon in follicular lymphoma patients:results of the GELA - GOELAMS FL2000 study 显示文摘 | Salles G Mounier N de Guibert S | 2008 | Blood2008，4，： | 1 |
| 5 | Circulating microparticles from pulmonary hypertensive rats induce endothelial dysfunction显示文摘 | Tual-Chalot S Guibert C Muller B | 2010 | Am J Respir Crit Care Med2010，182，2： | 1 |
| 6 | Rituximab combined with chemotherapy and interferon in follicular lymphoma patients: results of the GELA-GOELAMS FL2000 study显示文摘 | Salles G Mounier N De Guibert S | 2008 | Blood2008，112，13： | 1 |
| 7 | Mechanical properties and non-homogeneous deformation of open-cell nicked foams: application of the mechanics of cellular solids and porous materials 显示文摘 | Badiche X Forest S Guibert T | 2000 | Materials Science and Engineering2000，289，： | 1 |
| 8 | Soluble HLA-G molecules lncrease during acute leukemia,especially in subtypes affecting monocytic and lymphoid lineages显示文摘 | Gros F Sebti Y de Guibert S | 2006 | Neoplasia2006，8，3： | 1 |
| 9 | Mater Sci Eng A显示文摘 | Badiche X Forest S Guibert T Bienvenu Y Bartout J D Ienny P Croset M Bernet H | 2000 | 289:2762000，289，： | 1 |
| 10 | Lack of closure between dry and wet aerosol measurements: Results from ACE -2 显示文摘 | Snider J R Guibert S Brenguier J L | 2000 | AlP Conference Proceedings2000，534，1： | 1 |
| 11 | Mechamcal propemes and nun-homogeneous deformation of open-cell uickel foams: application of the mechanics of cellular solids and of porous materials 显示文摘 | r Badiche X Forest S Guibert T | 2000 | Materials Science anti Engineerhng A2000，289，12： | 1 |
| 12 | Widespread expression of the bovine Agouti gene re- sults from at least three alternative promoters 显示文摘 | GIRARDOT M MARTIN J GUIBERT S | 2005 | Pigment Cell Res2005，18，1： | 1 |
| 13 | Soluble HLA-G molecules increase during acute leukemia,especially in subtypes affecting monocytic and lymphoid lineages显示文摘 | Gros F Sebti Y de Guibert S | 2006 | Neoplasia2006，8，3： | 1 |
| 14 | Artificial versus stimulated cycles for endometrial preparation prior to frozen-thawed embryo transfer显示文摘 | Wright KP Guibert J Weitzen S | | 0，，： | 1 |
| 15 | Widespread expression of the bovine Agouti gene results from at least three alternative promoters显示文摘 | ( -irardot M Martin J Guibert S | 2005 | Pigment Cell Res2005，18，： | 1 |
| 16 | Brachytherapy in lip carcinoma: long-term results显示文摘 | Guibert M David I Vergez S | 2011 | Int J Radiat Oncol Biol Phys2011，81，5： | 1 |
| 17 | Mechanical proper ties and non - homogeneous deformation of open cell nickel foams:application of the mechanics of cellular solids and of por- ous materials显示文摘 | BADICHE X FOREST S GUIBERT T | 2000 | Materials Science and Engineering A2000，289，12： | 1 |
| 18 | 显示文摘 | Forest S guibert T | 2000 | Materials Science and Engineering2000，289，： | 1 |
| 19 | Mechanical properties and non-homogeneous deformation of open-cell nickel foams:application of the mechanics of cellular solids and of porous materials显示文摘 | BADICHE X FOREST S GUIBERT T | | 0，，： | 1 |
| 20 | Soluble HLA-G molecules increase during acute leukemia, especially in subtypes affecting monocytic and lymphoid lineages 显示文摘 | Gros F Sebti Y de Guibert S | 2006 | Neoplasia2006，8，3： | 1 |
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