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 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 کاملUnusual presentation of Lynch Syndrome
Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Synd...
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 ...
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ژورنال
عنوان ژورنال: Current Oncology Reports
سال: 2021
ISSN: 1523-3790,1534-6269
DOI: 10.1007/s11912-021-01085-z