منابع مشابه
Diagnosing Lynch syndrome
R isk stratification is essential for designing efficacious and cost effective colon cancer screening programmes. One of the most important risk factors for colorectal cancers (CRC) is an inherited predisposition, implicated in 20% of all cases. The spectrum of genetic susceptibility ranges from the low penetrance mutations that modestly increase the colon cancer risk (for example, I 1307K) to ...
متن کاملLynch syndrome (HNPCC)
Lynch syndrome, also referred to as hereditary non-polyposis colorectal cancer (HNPCC), accounts for somewhere between 2 and 5% of all CRC. It has been shown that Lynch syndrome (LS) is a result of germline mutations in genes involved in DNA mismatch repair (MMR) MSH2, MLH1, MSH6, and PMS2, whereas as HNPCC refers to families that adhere to the Amsterdam criteria or iterations of it. More recen...
متن کاملLynch syndrome: five unanswered questions
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 ...
متن کاملHistorical Aspects of Lynch Syndrome
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...
متن کاملLynch Syndrome: An Updated Review
Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%-70% lifetime risk of colorectal cancer, 40%-60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2018
ISSN: 1768-3262
DOI: 10.4267/2042/68907