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Báo cáo khoa học: "Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report | World Journal of Surgical Oncology BioMed Central Open Access Case report Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLHÍ Case report Cristian D Valenzuela1 Harvey G Moore 1 William C Huang2 Elsa W Reich3 Herman Yee4 Harry Ostrer3 and H Leon Pachter1 Address Department of Surgery NYU Langone Medical Center New York USA 2Department of Urology NYU Langone Medical Center New York USA 3Human Genetics Program NYU Langone Medical Center New York USA and 4Department of Pathology NYU Langone Medical Center New York USA Email Cristian D Valenzuela - cristian.valenzuela@nyumc.org Harvey G Moore - harvey.moore@nyumc.org William C Huang - william.huang@nyumc.org Elsa W Reich - elsa.reich@nyumc.org Herman Yee - herman.yee@nyumc.org Harry Ostrer - harry.ostrer@nyumc.org H Leon Pachter - leon.pachter@nyumc.org Corresponding author Published 8 December 2009 Received 25 September 2009 World Journal of Surgical Oncology 2009 7 94 doi 10.1186 1477-7819-7-94 Accepted 8 December 2009 This article is available from http www.wjso.cOm content 7 1 94 2009 Valenzuela et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background MLHI is one of six known genes responsible for DNA mismatch repair MMR whose inactivation leads to HNPCC. It is important to develop genotype-phenotype correlations for HNPCC as is being done for other hereditary cancer syndromes in order to guide surveillance and treatment strategies in the future. Case presentation We report a 47 year-old male with hereditary nonpolyposis colorectal cancer HNPCC associated with a novel germline mutation in MLHI. This patient expressed a rare and severe phenotype characterized by three synchronous primary carcinomas .