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| 1 | Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases显示文摘AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC cases.METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of age.Genomic DNA from blood was enriched for exome sequences using the Sure Select Human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 platform.Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.RESULTS: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.In 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as pathogenic.Inthe remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating mutations.One previously unreported variant identified in a conserved region of EIF2AK4(p.Glu738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes. | Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel | 2015 | World Journal of Gastroenterology2015，21，14： | 1 |
| 2 | Horizontal and vertical communication as determinants of professional and organisational identification显示文摘 | Jos Bartels Oscar Peters Menno de Jong Ad Pruyn Marjolijn van der Molen | 2010 | Personnel Review2010，，2： | 1 |
| 3 | Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD显示文摘 | Marjolijn Renard Bert Callewaert Machteld Baetens Laurence Campens Kay MacDermot Jean-Pierre Fryns Maryse Bonduelle Harry C. Dietz Isabel Mendes Gaspar Diogo Cavaco Eva-Lena Stattin Constance Schrander-Stumpel Paul Coucke Bart Loeys Anne De Paepe Julie De | 2011 | International Journal of Cardiology2011，，： | 1 |
| 4 | From Lab to Field Conditions: A Pilot Study on EEG Methodology in Applied Sports Sciences 显示文摘 | Kirsten Reinecke' Marjolijn Cordes Christiane Lerch Flo- ra Koutsandre'ou Michael Schubert Michael Weiss Jo- chen Baumeister | 2011 | Appl Psychophysiol Biofeedback2011，36，： | 1 |
| 5 | LEARN 2 MOVE 2-3 a randomized controlled trial on the effieacy of child-focused intervention and context-focused intervention in preschool children with cerebral palsy显示文摘 | Marjolijn K Anne JA Olaf V | 2010 | BMC Pediatrics2010，80，10： | 1 |
| 6 | Elbow Dislocation With Intra-Articular Fracture: The Results of Operative Treatment Without Repair of the Medial Collateral Ligament显示文摘 | Christopher Forthman Marjolijn Henket David C. Ring | 2007 | Journal of Hand Surgery2007，，： | 1 |
| 7 | Learn 2 Move 2-3 a randomized controlled trial on the efficacy of child-focused intervention and context-focused intervention in preschool children with cerebral palsy显示文摘 | Marjolijn K Anne JA Olaf V | 2010 | BMC Pediatrics2010，80，10： | 1 |
| 8 | Traditional and Modern Technology Assessment:Toward a Toolkit 显示文摘 | Jan Van Den Ende Karel Mulder Marjolijn Knot Ellen Moors Philip Vergragt | 1998 | Technological Forecasting and Social Change1998，，58： | 1 |
| 9 | Pre-S proteins in hepatitis B 显示文摘 | Leo K Marjolijn K Iain ML | 1989 | J Med Virol1989，28，： | 1 |
| 10 | Making sense of polysemous words显示文摘 | Verspoor Marjolijn & Wander Lowie | 2003 | Language Learning2003，53，： | 1 |
| 11 | Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer显示文摘 | Richarda M. de Voer Ad Geurts van Kessel Robbert D.A. Weren Marjolijn J.L. Ligtenberg Dominique Smeets Lei Fu Lilian Vreede Eveline J. Kamping Eugène T.P. Verwiel Marc-Manuel Hahn Maayke Ariaans Liesbeth Spruijt Ton van Essen Gunnar Houge Hans K. Schacker | 2013 | Gastroenterology2013，，： | 1 |
| 12 | Traditional and Modern Technology Assessment: Toward a Toolkit 显示文摘 | KAREL M MARJOLIJN K etc | 1998 | Technological Forecasting and Social Change1998，，58： | 1 |
| 13 | Getting Acquain- ted through Social Network Sites: Testing a Model of Online Un- certainty Reduction and Social Attraction 显示文摘 | Marjolijn L Antheunis P M Valkenburg J P | 2010 | Computers in Hu- man behavior2010，26，1： | 1 |
| 14 | EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients显示文摘 | Marjolijn J. L. Ligtenberg Roland P. Kuiper Ad Geurts van Kessel Nicoline Hoogerbrugge | 2013 | Familial Cancer2013，，2： | 1 |
| 15 | Germline copy number variation and cancer risk显示文摘 | Roland P Kuiper Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Ad Geurts van Kessel | 2010 | Current Opinion in Genetics & Development2010，，3： | 1 |
| 16 | VALUE OF THE IN VITRO OR IN VIVO MONOETHYLGLYCINEXYLIDIDE TEST FOR PREDICTING LIVER GRAFT FUNCTION显示文摘 | Peter Olinga John K. Maring Geny M.M. Groothuis Koos Kranenburg Marjolijn Merema Ingrid H. Hof Dirk K.F. Meijer Maarten J.H. Slooff | 1997 | Transplantation1997，，1： | 1 |
| 17 | Traditional and modern technology assessment: toward a toolkit显示文摘 | Karel M Marjolijn K Ellen M Philip V | 1998 | Technological Forecasting and Social Change1998，58，： | 1 |
| 18 | Somatic mutations in MLH1 and MSH2 are a Frequent Cause of Mismatch-repair Deficiency in Lynch Syndrome-like Tumors显示文摘 | Arjen R. Mensenkamp Ingrid P. Vogelaar Wendy A.G. van Zelst-Stams Monique Goossens Hicham Ouchene Sandra J.B. Hendriks-Cornelissen Michael P. Kwint Nicoline Hoogerbrugge Iris D. Nagtegaal Marjolijn J.L. Ligtenberg | 2013 | Gastroenterology2013，，： | 1 |
| 19 | CDH1‐related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling显示文摘 | IrmaKluijt Ester J.M.Siemerink Margreet G.E.M.Ausems Theo A.M.van Os Daphnede Jong JoanaSim?es‐Correia J. Hanvan Krieken Marjolijn J.Ligtenberg JoanaFigueiredo Elsvan Riel Rolf H.Sijmons John T.M.Plukker Richardvan Hillegersberg EvelienDekker CarlaOliveir | 2012 | Int. J. Cancer2012，，2： | 1 |
| 20 | Capaci- ty, capability, and performance : different constructs of a kind? 显示文摘 | Laura Holsbeeke Marjolijn Ketelaar Marina M | 2009 | Archives of Physical Medicine and Rehabili- tation2009，90，5： | 1 |
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