Article
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
Familial cancer - 1 Jan 2009
Nilbert Mef, Wikman Friedrik P, Hansen Thomas V O, Krarup Henrik B, Orntoft Torben F, Nielsen Finn C, Sunde Lone, Gerdes Anne-Marie, Cruger Dorthe, Timshel Susanne, Bisgaard Marie-Louise, Bernstein Inge, Okkels Henrik
Abstract excerpt
An increasing number of mismatch-repair (MMR) gene mutations have been identified in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. This study presents the population-based Danish MMR gene mutation profile, which contains 138 different MMR gene alterations. Among these, 88 mutations in 164 families are considered pathogenic and an additional 50 variants from 76 families are considered to...
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