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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 | 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 |
| 3 | Cdk2 knockout mice are viable 显示文摘 | BERTHET C ALEEM E COPPOLA V | 2003 | Curr Biol2003，13，： | 1 |
| 4 | 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 |
| 5 | Estimates of trace metal bioavailability to humans ingesting contaminated oysters显示文摘 | BRAGIGAND V BERTHET B AMIARD J C | | 0，，11： | 1 |
| 6 | New evidence of neuroprotec- tion by lactate aftertransient focal cerebral ischaemia: extended benefit after injection and efficacy of intravenous drain- istration显示文摘 | Berthet C Castillo X Magistretti PJ | 2012 | Cerebrovasc Dis2012，34，56： | 1 |
| 7 | KvLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome显示文摘 | Donger C Denjoy I Berthet M | 1997 | Circulation1997，96，9： | 1 |
| 8 | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome显示文摘 | Denjoy I Berthet M | 1997 | Circulation1997，96，9： | 1 |
| 9 | Cdk2 and Cdk4activities are dispensable for tumorigenesis caused by the loss of p53显示文摘 | Padmakumar V C Aleem E Berthet C | 2009 | Mol Cell Biol2009，29，10： | 1 |
| 10 | Rb/Cdk2/Cdk4 triple mu- tant mice elicit an alternative mechanism for regulation of the G1 / S transition显示文摘 | Li W Kotoshiba S Berthet C | 2009 | Proc Natl Acad Sci USA2009，106，2： | 1 |
| 11 | Cell-specific responses to loss of cyclin-dependent kinases显示文摘 | Berthet C Kaldis P | 2007 | Oncogene2007，26，31： | 1 |
| 12 | Cdk2 knockout mice are viable显示文摘 | BERTHET C ALEEM E COPPOLA V | 2003 | Curr Biol2003，13，20： | 1 |
| 13 | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome显示文摘 | Donger C Denjoy I Berthet M | 1997 | Circulation1997，96，9： | 1 |
| 14 | Rb/Cdk2/Cdk4triple mutant mice elicit an alternative mechanism for regulation of the G1/S tran sition显示文摘 | Li W Kotoshiba S Berthet C | 2009 | Proc Natl Acad Sci USA2009，106，2： | 1 |
| 15 | Neuroprotective role of lactate after cerebral ischemia显示文摘 | Berthet C Lei H Thevenet J | 2009 | J Cereb Blood Flow Metab2009，29，11： | 1 |
| 16 | Combined loss of Cdk2 and Cdk4 results in embryonic lethality and Rb hypophosphorylation 显示文摘 | Berthet C Klarmann KD Hilton MB | 2006 | Dev Cell2006，10，5： | 1 |
| 17 | Neuroprotective role of lactate after cerebral ischemia显示文摘 | BERTHET C LEI H THEVENRT J | 2009 | J Cereb Blood Flow Metab2009，29，11： | 1 |
| 18 | Esti-mates of tracemetal bioavailability to humans ingesting contami- nated oysters 显示文摘 | BRAGIGAND V BERTHET B AMIARD J C | 2004 | Food Chem Toxicol2004，42，11： | 1 |
| 19 | Creater male fitness of a rare invader Spartina alterniflora,threatens a common native Spadina fo-liosa with hybridization显示文摘 | ANTTILA C K MULLANY L K BERTHET C | 1999 | American Journal of Botany1999，85，11： | 1 |
| 20 | C - terminal HERG mutations :the role of hypokalemia and a KCNQ1 -associated mutation in cardiac event occurrence 显示文摘 | Berthet M Denjoy I Donger C | 1999 | Circulation1999，99，： | 1 |
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