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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 | Complete genomes of two clinical Staphylococcus aureus strains:evidence for the rapid evolution of virulence and drug resistance显示文摘 | Holden MT Feil EJ Lindsay JA Peacock SJ Day NP Enright MC Foster TJ Moore CE Hurst L Atkin R Barron A Bason N Bentley SD Chillingworth C Chillingworth T Churcher C Clark L Corton C Cronin A Doggett J Dowd L Feltwell T Hance Z Harris B Hauser H Holroyd S Jagels K James KD Lennard N Line A Mayes R Moule S Mungall K Ormond D Quail MA Rabbinowitsch E Rutherford K Sanders M Sharp S Simmonds M Stevens K Whitehead S Barrell BG Spratt BG Parkhill J | 2004 | Proc Natl Acad Sci USA2004，101，26： | 1 |
| 3 | Time-dependent polymerization kinetic study and the properties of hybrid polymers with functional silsesquioxanes 显示文摘 | MYA K Y LINE M J GUDIPATI C S | 2010 | The Journal of Physical Chemistry B2010，114，28： | 1 |
| 4 | The stiffness of agricultural tractor tyres显示文摘 | Lines J A Murphy K | 1991 | Journal of Terramechanics1991，28，1： | 1 |
| 5 | The use ofa thermostable signature amidase in the resolution of the bicyclic synthon (rac) ~/-lactam 显示文摘 | T~D H S BROWN R C LINE K | 2004 | Tetrahedron2004，60，3： | 1 |
| 6 | The Travel Behavior Intentions of Young People in the Context of Climate Change显示文摘 | LINE T CHATTERJEE K LYONS G | 2010 | Journal of Transport Geography2010，18，2： | 1 |
| 7 | New frond formation in Laminaria hyperborea (Phaeophyta) :a photoperiodic response 显示文摘 | Lining K | 1986 | Br Phycol J1986，21，： | 1 |
| 8 | Cooperative inversion of geophysical data 显示文摘 | Lines L Schultz A K Treitel S | 1987 | Expanded Abstracts of 57^th Annual International SEG Meeting1987，，： | 1 |
| 9 | Calcineurin inhibitor avoidance with daclizumab, mycophenolate mofetil, and prednisolone in DR-matched de novo kidney transplant recipients 显示文摘 | Asberg A Midtvedt K Line PD | 2006 | Transplantation2006，82，1： | 1 |
| 10 | Cooperative inversion of geophysical data显示文摘 | Lines L Schultz A K Treitel S | 1988 | Geophysics1988，53，1： | 1 |
| 11 | Cooperative inversion of geophysical data显示文摘 | Lines L Schultz A K Treitel S | 1988 | Geophysics1988，53，1： | 1 |
| 12 | Is the toxic for human placental JEG-3 toxicants on hormonal profile, CYP1A1 activity, DNA damage and cell apoptosis显示文摘 | Augustowska K Magnowska natural PCDD/PCDF mixture cell line? The action of the Z Kapiszewska M | 2007 | Hum Exp Toxieol2007，26，： | 1 |
| 13 | Effect of prolonged heattreatment from 48^ to 63^ on toughness,cooking loss and colorof pork显示文摘 | Line C Per E Margit Dali k | 2011 | Meat Science2011，88，2： | 1 |
| 14 | Temperature dependence of chromatic dispersion in dispersion-shifted fibers: experiment and analysis显示文摘 | KIM K S LINES M E | 1993 | Appl Phys1993，73，5： | 1 |
| 15 | Characterization and antigenicity of recombinant Campylobacter jejuni flagel- lar capping protein FliI)显示文摘 | YEH H Y HIETT K L LINE J E | 2014 | Journal of Medical Microbiolo-gy2014，63，4： | 1 |
| 16 | Vibroseis deconvolution: a synthetic comparison of cross correlation and frequency domain sweep deconvolu- tion显示文摘 | BRITYLE Katherine F LINES Laurence R DEY Ayon K | 2001 | Geophysical Prospecting2001，49，： | 1 |
| 17 | SLOOP is a gene that facilitates transendothelial migration of pancreatic cancer cells 显示文摘 | Barry S Chelala C Lines K | 2013 | Clin Exp Metastasis2013，30，3： | 1 |
| 18 | Potential adsorption of dissolved organic matter in poorly podzolised, high-latitude soils 显示文摘 | ANNELENE P LINE K J JAN M | 2014 | Geoderma2014，，： | 1 |
| 19 | The Engtish bulldog= a natural model of sleep-dis ordered breathing显示文摘 | HENDRICKS J C K LINE L R KOVALSKI R J | 1987 | J Appl Physiol1987，63，： | 1 |
| 20 | Calcineurin inhibitor avoidance with daclizumab,mycophenolate mofetil,and prednisolone in DR-matched de novo kidney transplant recipients显示文摘 | Asberg A Midtvedt K Line PD | 2006 | Transplantation2006，82，1： | 1 |
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