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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 | Correlation between cyclooxygenase-2 and tumor angiogenesis in non-small cell lung cancer显示文摘 | Hyung-SK Hyung RY Ji S L | 2003 | Lung Cancer2003，42，： | 1 |
| 3 | Progesterone inhibition of the hypothalamic gonadotropin-releasing hormone pulse generator: evidence for varied effects in hyperandrogenemic adolescent glrls显示文摘 | Chhabra S McCartney CR Yoo RY | 2005 | J Clin Endocrinol Metab2005，90，5： | 1 |
| 4 | An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica显示文摘 | Schmitt S Küry S Giraud M | 2009 | Hum Mutat2009，30，6： | 1 |
| 5 | Intelligent Cruise2eontrol App li2eations2real2time, Embedded Hybrid Control Software 显示文摘 | Girard A R Sp ry S Hedriek J K | 2005 | IEEE Robotics & AutomationMagazine2005，12，1： | 1 |
| 6 | Maternal age and outcome of preterm infants at discharge from the neonatal intensive care unit显示文摘 | Eventov-Friedman S Zisk-Rony RY Nosko S | 2015 | Int J Gynaecol Obstet2015，，： | 1 |
| 7 | C-type natriuretic peptide expression in patients with chronic heart failure: effects of aerobic training 显示文摘 | Passino C Del Ry S Severino S | 2008 | Eur J Cardiovasc Prev Rehabil2008，15，2： | 1 |
| 8 | A correlation for metastable flow of refi-igerant 12 through capillary tubes 显示文摘 | Chen ZH Li RY Lin S Chen ZY | 1990 | ASHRAE Tram1990，96，1： | 1 |
| 9 | The circulating levels of cardi- ac natriuretic hormones in healthy adults: effects of age and sex 显示文摘 | Clerico A Del Ry S Maffei S | 2002 | Clin Chem Lab Med2002，40，4： | 1 |
| 10 | Solitary splenic metastasis:case report and review of the literature显示文摘 | Agha-Mohammadi S Calne RY | 2001 | Am J Clin Oncol2001，24，3： | 1 |
| 11 | Effects of interferon alpha therapy on the catalytic domains of the polymerase gene and basal core promoter,precore and core regions of hepatitis B virus显示文摘 | Chen RY Bowden S Desmond PV | | 0，，06： | 1 |
| 12 | Natriuretic Peptide system andthe heart 显示文摘 | Del Ry S Cabiati M Clerico A | 2014 | Front Horm Res2014，43，： | 1 |
| 13 | Natriur- etic peptide system and the heart显示文摘 | Del Ry S Cabiati M Clerico A | 2014 | Front Home Res2014，43，： | 1 |
| 14 | C-type natriuretic peptide and its relationto non-invasive indices of left ventricular function in patients with chronic eart failure显示文摘 | Del Ry S Maltinti M | 2008 | Peptides2008，29，1： | 1 |
| 15 | Exosomes:composition,biogenesis and function显示文摘 | Théry C Zitvogel L Amigorena S | 2002 | Nat Rev Immunol2002，2，8： | 1 |
| 16 | Cardiac production of C-type natriuretic peptide in heart failure 显示文摘 | Del Ry S Maltinti M Piacenti | 2006 | J Cardiovasc Med(Hagerstown)2006，7，6： | 1 |
| 17 | Plasma adrenomeduilin relation with doppler - derived dP/dt in patients with congestive heart failure显示文摘 | Morales MA del Ry S Startari U | 2006 | Clin Cardiol2006，29，3： | 1 |
| 18 | Inducible pluripotent stem cells for the treatment of ischemic stroke:current status and problems显示文摘 | Zhu Y Wan S Zhan RY | 2012 | Rev Neurosci2012，23，4： | 1 |
| 19 | High-dose gamma irradiation for soft tissue allografts:high margin of safety with biomechanical integrity显示文摘 | Grieb TA Forng RY Bogdansky S | 2006 | J Orthop Res2006，5，： | 1 |
| 20 | C-type natriuretic peptide expression in patients with chronic heart failure: effects of aerobic training显示文摘 | Passino C Ry SD Severino S | 2008 | Eur J Cardiovasc Prev Rehabil2008，15，2： | 1 |
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