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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 | Multi kJ level Laser Concepts for HiPER Facility显示文摘 | J-C Chanteloup D Albach A Lucianetti K Ertel S Banerjee P D Mason C Hernandez-Gomez J L Collier J Hein M Wolf J K?rner B J Le Garrec | 2010 | Journal of Physics: Conference Series2010，，1： | 1 |
| 3 | Unexpected frequency of Upshaw-Sehulman syndrome in pregnancy-onset thrombotic thrombocytopenic pur- pura显示文摘 | MOATTIi-COHEN M GARREC C WOLF M | 2012 | Blood2012，119，： | 1 |
| 4 | Can tumor necrosis factor inhibitors induce sclero-uveitis? 显示文摘 | Le Garrec J Marcelli C Mouriaux F | 2009 | J Fr Ophtal- mol2009，32，7： | 1 |
| 5 | Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic pur pura 显示文摘 | Moatti-Cohen M Garrec C Wolf M | 2012 | Blood2012，119，24： | 1 |
| 6 | Influence of the yttria powder morphology on its densification ability 显示文摘 | Dupont A Largeteau A Parent C Garrec Le B Heintz J M | 2005 | Journal of the European Ceramic Society2005，25，： | 1 |
| 7 | Size and morphology control of Y2O3 nanopowders via a sol-gel route 显示文摘 | Dupont A Parent C Le Garrec B | 2003 | Journal of Solid State Chemistry2003，71，： | 1 |
| 8 | N-Isopropylacrylamide copolymers for the preparation of pH-sensitive liposomes and polymeric micelles显示文摘 | Leroux J C Roux E Le Garrec D et a1 | 2001 | J Controlled Release2001，72，13： | 1 |
| 9 | 显示文摘 | Dupont A Parent C Garrec B Le | 2003 | Journal of Solid State Chemistry2003，71，： | 1 |
| 10 | Size and morphology control of Y2O3 nanopowders via a sol - gel route显示文摘 | Dupont A Parcnt C I Garrec B L | 2003 | J Solid Chem2003，172，： | 1 |
| 11 | Neuropathic pruritus 显示文摘 | Misery L Brenaut E Ire Garrec R Abasq C Genestet S Marcorelles P | 2014 | Nat Rev Neurol2014，10，： | 1 |
| 12 | Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura显示文摘 | Moatti-Cohen M Garrec C Wolf M | | 0，，24： | 1 |
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