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A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas
European Journal of Surgical Oncology, 09/15/09
Tanyi M et al. – The detected genetic alteration was considered pathogenic and was not published yet in English literature. The significance of this particular case is the rare tumor association in a patient with Muir–Torre syndrome. In cases of sebaceous skin lesions, evaluation of family history is of utmost importance in the early detection of HNPCC and in the follow up care of family members with the particular mutation.
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