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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 | Long - term clinical out come of paraneoplastic cerebellar degeneration and anti - Yo antibodies 显示文摘 | Rojas I Graus F Keime - Guibert F | 2000 | Neurology2000，55，5： | 1 |
| 3 | 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 |
| 4 | Laparoscopic pericys - tectomy of a liver hydatid cyst 显示文摘 | Guibert L Gayral F | 1995 | Surg Endosc1995，9，： | 1 |
| 5 | Use of proper orth ogonal cecomposition for time interpolation from PIV data显示文摘 | Druault P Guibert P Alizon F | 2005 | Experiments in Fluids2005，39，6： | 1 |
| 6 | 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 |
| 7 | Extended cold storage of cultured hepatocytes impairs endocytic uptake during normothermic rewarming显示文摘 | Hovanyecz P Guibert EE Pellegrino JM | 2013 | Cryobiology2013，66，2： | 1 |
| 8 | 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 |
| 9 | Diagnostic and prognostic impact of 18F-FDG PET/CT in follicular lym- phoma显示文摘 | Ludovic Le Dortz Sophie De Guibert Sahar Bayat | 2010 | Eur J Nucl Med Mol Imaging2010，37，12： | 1 |
| 10 | Survival and prognostic factors in patients undergoing parenchymal saving bronchoplastic operation for primary lung cancer:a series of 110 consecutive cases显示文摘 | Icard P Regnard JF Guibert L er al | | European Journal of Cardio-Thoracic Surgery0，，： | 1 |
| 11 | 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 |
| 12 | Bidirectional cytokine interactions in thematernal-fetal relationship: is successful pregnancy a Th2 phenomenon 显示文摘 | Wegmann TG Lin H Guibert L | 1993 | Immunol Today1993，14，： | 1 |
| 13 | Molecularand biochemical character-ization of VEB-1,a novel class A extendedspectrum beta-lactamase encoded by an Escherichia coliintegron gene显示文摘 | Poire 1 Naas T Guibert M | 2005 | Antimicrob Agents Chemother2005，43，3： | 1 |
| 14 | 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 |
| 15 | The world health report 2002-reducing risks, promoting healthy life 显示文摘 | Guibert JJ | 2003 | Educ Health (Abingdon)2003，16，2： | 1 |
| 16 | Kinetics of SRY gene appearance in maternal serum:detection by real time PCR in early pregnancy after assisted reproductive technique显示文摘 | Guibert J Benachi A Grebille AG | | 0，，08： | 1 |
| 17 | Use of proper orthogonal decomposition for time interpolation from PIV data显示文摘 | Philippe Druault Philippe Guibert Franck Alizon | | 0，，06： | 1 |
| 18 | The world health report 2002-reducing risks, promoting healthy life 显示文摘 | Guibert JJ | 2003 | Edue Health ( Abingdon )2003，16，2： | 1 |
| 19 | Detection and treatment of antibiotic-resistant bacterial carriage in a surgical intensive care unit:a 6 year prospective survey显示文摘 | Troche G Joly LM Guibert M | 2005 | Infect Control Hosp Epidemiol2005，26，2： | 1 |
| 20 | Cloning, sequence, analyses, expression, and distribution of ampC-ampR from Morganella morganii clinical isolates显示文摘 | Guibert M Girlich D | 1999 | Antimicrob Agents Chemother1999，43，4： | 1 |
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