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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 | Genetic and metabolic aspectsof androstenone and skatole deposition in pig adipose tissue : areview显示文摘 | Robic A Larzul C Bonneau M | 2008 | EDP Sciences2008，40，1： | 1 |
| 3 | Polyamine metabolism duringseeding development显示文摘 | BONNEAU L CARRE M DREUMONT C | 1994 | Plant Growth Regulation1994，15，： | 1 |
| 4 | Predictive markers of chemoresistance in advanced stages epithelial ovarian carcinoma显示文摘 | Bonneau C Rouzier R Geyl C | 2015 | Gynecol Oncol2015，136，1： | 1 |
| 5 | Reactive Powder Concrete: from Theory to Practice显示文摘 | Bonneau O Poulin C | 1996 | Concrete International1996，18，4： | 1 |
| 6 | CA125 kinetic pa-rameters predict optimal cytoreduction in patients with ad- vanced epithelial ovarian cancer treated with neoadjuvant chem- otherapy 显示文摘 | Pelissier A Bonneau C Chereau E | 2014 | Gynecol Oncol2014，135，3： | 1 |
| 7 | Hypericinincorporation and localization in fixed HeLa cells for variousconditions of fixation and incubation显示文摘 | Vuong TTK Vever-Bizet C Bonneau S | 2011 | PhotochemPhotobiol Sci2011，10，： | 1 |
| 8 | Reactive Powder Concretes:from Theory to Practice显示文摘 | Bonneau O Poulin C Dugat J | 1996 | Concrete International1996，18，4： | 1 |
| 9 | Lymphatic and nerve distribution throughout the parametrium显示文摘 | Bonneau C Cortez A Lis R | 2013 | Gynecol Oncol2013，131，3： | 1 |
| 10 | An open-framework silicogermanate with 26-ring channels built from seven-coordinated( Ge, Si) 10 ( O, OH) 28 clusters显示文摘 | CHRISTENSEN K E BONNEAU C GUSTAFSSON M | 2008 | J Am Chem Soc2008，130，12： | 1 |
| 11 | Cystatin C based equations in renal transplantation : moving toward a better glomerular filtration rate prediction? 显示文摘 | Maillard N Mariat C Bonneau C | 2008 | Transplantation2008，85，12： | 1 |
| 12 | Comparative study of treatment of renal stones with flexible ureterorenoscopy in obese, morbidly obese and normal weight patients显示文摘 | Doizi S Bonneau C Gil Diez De Medina S | 2013 | The Journal of urolo- gy2013，189，4： | 1 |
| 13 | The effect of immunization against luteinizing hormone releasing hormone on performance, sexual development, and levels of boar taint -- related compounds in intact male pigs 显示文摘 | Bonneau M Dufour R Chouvet C | 1994 | J Anim Sci1994，72，： | 1 |
| 14 | Cellu- lar uptake and subcellular distribution of chlorin e6 as func- tions of pH and interactions with membranes and lipoproteins显示文摘 | MOJZISOVA H BONNEAU S VEVER-BIZET C | 2007 | Biochim Biophys Acta2007，1768，11： | 1 |
| 15 | Three-dimensional EHD behavior of the engine block/crankshaft assembly for a four cylinder inline automotive engine显示文摘 | GARNIER T BONNEAU D GRENTE C | 1999 | ASME Journal of Tribology1999，121，： | 1 |
| 16 | 查看详情显示文摘 | V Krachmalnicoff J C Jaskula M Bonneau V Leung G B Partridge D Boiron C I Westbrook P Deuar P Zif(n) M Trippenbach and K V Khernntsyan | | 0，，15： | 1 |
| 17 | Evaluating motor recovery early after stroke: comparison of the Fugl-Meyer assessment and the motor assessment scale 显示文摘 | Malouin F Pichard L Bonneau C | 1994 | Arch Phys Med Rehab1994，75，： | 1 |
| 18 | Reactive Powder Concrete:From Theory to Practice显示文摘 | Bonneau O Poulin C Dugat J Aitcin P C | 1996 | Concrete International1996，18，： | 1 |
| 19 | The ITQ-37 mesoporous chiral zeolite显示文摘 | Sun J L Bonneau C Cantin A | 2009 | Nature2009，458，： | 1 |
| 20 | Reactive powder concrete : From theory to practice 显示文摘 | BONNEAU O POULIN C DUGAT J | 1996 | Concrete International1996，18，4： | 1 |
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