نتایج جستجو برای: lynch syndrome
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Despite the great advances that have occurred in the century following the first description of a Lynch syndrome (LS) family and more especially, in more than 20 years since the discovery of causal mutations in the mismatch repair genes (MMR), long-standing clinical questions remain unanswered. Moreover, as a result of novel technologies, new questions have arisen. With this commentary, we aim ...
M.A. Rodriguez-Bigas et al. (eds.), Hereditary Colorectal Cancer, M.D. Anderson Solid Tumor Oncology Series 5, DOI 10.1007/978-1-4419-6603-2_2, © Springer Science+Business Media, LLC 2010 Abstract In 1895, Aldred Warthin, M.D., a pathologist with a keen interest in patients, and a good listener, noted that his seamstress appeared to be depressed. He pursued this in detail, and she told him it w...
This correspondence is an addendum to our recent report (1) about the prevalence of Lynch syndrome among all newly diagnosed endometrial cancer patients. Two additional deleterious MSH6 gene mutations were found on completion of molecular analysis in the last 19 patients. In addition, RNA studies have allowed the reclassification of one of the presumptive missense mutations c.1304T>C (p.Leu435P...
1. Evans HS, Moller H, Robinson D, Lewis CM, Bell CM, Hodgson SV. The risk of subsequent primary cancers after colorectal cancer in southeast England. Gut 2002;50:647-52. 2. Lee JW, Kim JW, Kim NK. Clinical characteristics of colorectal cancer patients with a second primary cancer. Ann Coloproctol 2014;30:18-22. 3. Travis LB, Rabkin CS, Brown LM, Allan JM, Alter BP, Ambrosone CB, et al. Cancer ...
Background Sebaceous neoplasms of the skin (SN) are described in the Muir Torre variant of Lynch syndrome (LS). Guidelines recommend evaluating individuals diagnosed with sebaceous adenomas or sebaceous carcinomas for LS with immunohistochemistry (IHC) for mismatch repair (MMR) proteins and/or microsatellite instability analysis (MSI). The assumption has been that SNs with defective MMR are rel...
BACKGROUND Lynch syndrome is a disorder caused by mismatch repair gene mutations. Mutation carriers have a high risk of developing colorectal cancer. In patients with Lynch syndrome in whom colon cancer has been diagnosed, in general, subtotal colectomy instead of partial colectomy is recommended because of the substantial risk of metachronous colorectal cancer. However, the effect of more exte...
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