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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 | Attenuation of virulence by disruption of the Mycobacterium tuberculosis erp gene显示文摘 | Berthet FX | 1998 | Science1998，282，： | 1 |
| 3 | A Myeobac- terium tuber-culosis operon encoding ESAT-6 and a novel low- molecular-mass culture filtrate protein(CFP-lO) 显示文摘 | Berthet FX Rasmussen PB Roesnkrands I | 1998 | Microbiol- ogy1998，144，11： | 1 |
| 4 | Significant association of atrial vulnerability with atrial septal abnormalities in young patients with ischemic stroke of unknown cause显示文摘 | Berthet K Lavergne T Cohen A | 2000 | Stroke2000，31，2： | 1 |
| 5 | Evolution of the neurochemical profile after transient focal cerebral ischemia in the mouse brain 显示文摘 | Lei HX Berthet C Hirt L | 2009 | J Cereb Blood Flow Metab2009，29，4： | 1 |
| 6 | Efficacy of oral long- term N -acetylcysteine in chronic bronchopulmonary disease: a meta - analysis of published double -blind, placebo - controlled clinical trials 显示文摘 | Grandjean EM Berthet P Ruffman R | 2000 | Clin Ther2000，22，2： | 1 |
| 7 | Significant association of atrial vulnerability with atrial septal abnormalities in young patients with ischemic stroke of unknown cause显示文摘 | Berthet K Lavergne T Cohen A | 2000 | Stroke2000，31，2： | 1 |
| 8 | Efficacy of oral longterm N-acetylcysteine in chronic bronchopul monary disease:a metaanalysis of published double-blind,placebo-controlled clinical trials显示文摘 | Grandjean EM Berthet P Ruffmann R | 2000 | Clin Ther2000，22，： | 1 |
| 9 | A new alternativemethod for testing skin irritation using a human skinmod-el: a pilot study显示文摘 | Miles A Berthet A Hopf N B | 2014 | Toxicology in vitro2014，28，2： | 1 |
| 10 | In newlydiagnosed diffuse Large B-Cell Lymphoma, determination ofbone marrow Involvement with 18F-FDG PET/CT provides betterdiagnostic performance and prognostic stratification than doesBiopsy 显示文摘 | BERTHET L COCHET A KANOUN S | 2013 | JNucl Med2013，54，11： | 1 |
| 11 | Structure and mechanical properties of a high-performance BN fibre显示文摘 | Bernard S Chassagneux F Berthet M P | 2002 | J Eur Ceram Soc2002，22，： | 1 |
| 12 | A mycobacterium tuberculosis operon encoding ESAT6 and a novel low-moleclar-mass culture filtrate protein(CFP10)显示文摘 | Berthet F Rasmussen P Rosenkrands I | 1998 | Microbiology1998，144，11： | 1 |
| 13 | A Mycobacterium tuberculosis operon encoding ESAT-6 and a novel low-molecular-mass culture filtrate protein ( CFP-10 ) 显示文摘 | Berthet F X Rasmussen P B Rasenkrands I | 1998 | Microbiology1998，44，11： | 1 |
| 14 | Physico-chemistry of interfaces in inorganic-matrix composites 显示文摘 | Bouix J Berthet M P Bosselet F | 2001 | Composites Science and Technology2001，61，： | 1 |
| 15 | Compressive behavior of concrete externally confined by composite jackets显示文摘 | J.F. Berthet E. Ferrier P. Hamelin | 2005 | Construction and Building Materials2005，，5： | 1 |
| 16 | A mycobacterium tuberculosis operon encoding ESAT6 and a novel low-molecular-mass culture filtrate protein(CFP10)显示文摘 | Berthet FX Rasmussen PB Rosenkrands I | 1998 | Microbiology1998，144，11： | 1 |
| 17 | Cdk2 knockout mice are viable 显示文摘 | BERTHET C ALEEM E COPPOLA V | 2003 | Curr Biol2003，13，： | 1 |
| 18 | A neo-substrate thatamplifies catalytic activity of parkinson’s-disease- related ki-nase PINK1显示文摘 | Hertz NT Berthet A Sos ML | 2013 | Cell2013，154，4： | 1 |
| 19 | Cdk2 as a master of S phase entry: fact or ake显示文摘 | AleemE Berthet C Kaldis P | 2004 | Cell Cycle2004，3，1： | 1 |
| 20 | Sandwich-type phosphotungstates:structure,electrochemistry,and magnetism of the trinickel-substituted polyoxoanion[Ni3Na(H2O)2(PW9O34)2]11-显示文摘 | Kortz U Mbomekalle 1.M Keita B Nadjo L Berthet P | | 0，，： | 1 |
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