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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 | 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 |
| 3 | Differential transcriptional activity associated with chromatin configuration in fully grown mouse germinal vesicle oocytes 显示文摘 | Bouniol-Baly C Hamraoui L Guibert J | 1999 | Biol Reprod1999，60，3： | 1 |
| 4 | The influence of gap junc-tion network complexity on pulmonary artery smooth muscle reac-tivity in normoxic and chronically hypoxic conditions 显示文摘 | Gosak M Guibert C Billaud M | 2014 | ExpPhysiol2014，99，1： | 1 |
| 5 | Activite transcriptionnelle dans les ovocytes de follicules antraux chez la souris显示文摘 | Debey P Bouniol-Baly C Guibert J | 1993 | Mol Reprod Dev1993，，36： | 1 |
| 6 | Differen- tial transcriptional activity associated with chromatin con- figuration in fully grown mouse germinal vesicle oocytes 显示文摘 | Bouniol-Baly C Hamraoui L Guibert J | 1999 | Siol Reprod1999，60，3： | 1 |
| 7 | Circulating Microparticles from Pulmonary Hypertensive Rats Induce Endothelial Dysfunction 显示文摘 | Tual - Chalot S C Guibert B Muller | 2010 | American Journal of Respirator) and Critical Care Medicine2010，182，2： | 1 |
| 8 | Compar- ative study of active thermography techniques for the nondestructive evaluation of honeycomb structures 显示文摘 | Castanedo C I Genest M Guibert S | 2009 | Research in NDE2009，20，1： | 1 |
| 9 | Differential transcriptional activity associated with chromatin configuration in fully grow mouse germinal vesicle oocytes显示文摘 | Bouniol Baly C Hamraoui L Guibert J | 1999 | Biol Reprod1999，60，3： | 1 |
| 10 | Pharmacokinetics of single intravenous and intramuscular doses of cefotetan in normal human volunteers 显示文摘 | GUIBERT J KITZIS M D YVELIN C | 1983 | J Antimicrob Chemother1983，11，： | 1 |
| 11 | Luminescence dating of burnt materials:effects of preheat treatment on OSL and consequences for dating procedures 显示文摘 | Pierre Guibert Emmanuel Vartanian Cèline Roque | 2001 | Radiation Measurements2001，33，： | 1 |
| 12 | Positive and negative coupling of the endothelin ETA receptor to Ca^2+ -permeable channels in rabbit cerebral cortex arterioles 显示文摘 | Guibert C Beech DJ | 1999 | J Physiol1999，514，3： | 1 |
| 13 | Voltage-independent calcium influx in smooth muscle显示文摘 | GUIBERT C DUCRET T SAVINEAU J P | 2008 | ProgBiophys Mol Biol2008，98，1： | 1 |
| 14 | Stimulation of the subthalamic nucleus enhances the release of dopamine in the rat substantia nigra显示文摘 | Mintz I Hammond C Guibert B | 1986 | Brain Res1986，376，2： | 1 |
| 15 | Comparative study of active thermography techniques for the nondestructive evaluation of honeycomb structures显示文摘 | Ibarra-Castanedo C Piau J M Guibert S | 2009 | Research in Nondestructive Evaluation2009，，20： | 1 |
| 16 | Modulation of ion channels in pulmonary arterial hypertension 显示文摘 | Guibert C Marthan R Savineau JP | 2007 | Curr Pharm Des2007，13，24： | 1 |
| 17 | Inhibition of MRP4 prevents and reverses pulmonary hypertension in mice 显示文摘 | Hara Y Sassi Y Guibert C | 2011 | J Clin Invest2011，121，7： | 1 |
| 18 | Expression and physiologicalroles of TRP channels in smooth muscle cells 显示文摘 | Guibert C Ducret T Savineau JP | 2011 | Adv Exp Med Biol2011，4，： | 1 |
| 19 | Inhibition of MRP4 prevents and reverses pulmonary hypertension in mice显示文摘 | ltara G Sassi Y Guibert C et ol | 2011 | J Clio Invest2011，121，7： | 1 |
| 20 | Sodium potassium-ATPase electrogenicity in cerebral precapillary arterioles 显示文摘 | Quinn K Guibert C Beech DJ | 2000 | Am J Physiol Heart Circ Physiol2000，279，1： | 1 |
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