Article
The mutational spectrum of Lynch syndrome in cyprus.
PloS one - 1 Jan 2014
Loizidou Maria A, Neophytou Ioanna, Papamichael Demetris, Kountourakis Panteleimon, Vassiliou Vassilios, Marcou Yiola, Kakouri Eleni, Ioannidis Georgios, Philippou Chrystalla, Spanou Elena, Tanteles George A, Anastasiadou Violetta, Hadjisavvas Andreas, Kyriacou Kyriacos
Abstract excerpt
Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have an increased lifetime risk of developing colorectal cancer as well as other extracolonic tumours. The aim of the current study was to evaluate the frequency and distribution of mutations in the MLH1, MSH2 and MSH6 genes...
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