tailieunhanh - Báo cáo khoa học: "Lynch syndrome: still not a familiar picture"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Lynch syndrome: still not a familiar picture | BioMed Central World Journal of Surgical Oncology Case report Lynch syndrome still not a familiar picture Frederik J Hes Open Access Address Center for Human and Clinical Genetics CHKG Department of Clinical Genetics Leiden University Medical Center LUMC RC Leiden The Netherlands Email Frederik J Hes - Published 20 February 2008 Received 18 December 2007 __ AAAO n Accepted 20 February 2008 World Journal of Surgical Oncology 2008 6 21 doi 1477-7819-6-21 This article is available from http content 6 l 2l 2008 Hes licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems. Case presentation A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening on the basis of the family history. Conclusion Hereditary features like young age at diagnosis multiple tumors in multiple organs and a positive family history should lead to timely referral of suspected cases for genetic counseling and diagnostics. For Lynch syndrome these features can be found in the Amsterdam and Bethesda criteria. Subsequently early identification of mutation carriers might have diminished at least in part the high and early morbidity and mortality observed in this family. Background Colorectal carcinoma CRC is an important cause of cancer-related death in the Western world. The lifetime risk is about 5 and