COMMENTARY Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
نویسندگان
چکیده
Asad Umar, C. Richard Boland, Jonathan P. Terdiman, Sapna Syngal, Albert de la Chapelle, Josef Rüschoff, Richard Fishel, Noralane M. Lindor, Lawrence J. Burgart, Richard Hamelin, Stanley R. Hamilton, Robert A. Hiatt, Jeremy Jass, Annika Lindblom, Henry T. Lynch, Paı̈vi Peltomaki, Scott D. Ramsey, Miguel A. Rodriguez-Bigas, Hans F. A. Vasen, Ernest T. Hawk, J. Carl Barrett, Andrew N. Freedman, Sudhir Srivastava
منابع مشابه
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of ...
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Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
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PURPOSE Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated the feasibility of hereditary colorectal cancer based on hMLH1 methylation and BRAF mutations. METHODS Between May 2005 and June 2011, we enrolled all 33 analyzed pat...
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Background and Objectives: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germ-line mutations in DNA mismatch repair genes. Tumors arising as a result of these mutations display instability in a sequence area known as microsatellites. Studies have shown that some Bethesda markers (BAT25, BAT26) are more efficient than other...
متن کاملLynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: from the revised Bethesda guidelines to a universal approach.
OBJECTIVE Lynch syndrome (LS) is the most common hereditary form of colorectal cancer (CRC). The revised 2004 Bethesda guidelines were developed to identify potential LS patients. This study aimed to retrospectively evaluate utilization and adequacy of the guidelines in general pathology practice and to determine if a universal LS screening approach increased the potential LS detection rate in ...
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We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5 cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The...
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