Unusual presentation of Lynch Syndrome
نویسندگان
چکیده
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 Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.
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ورودعنوان ژورنال:
- Hereditary Cancer in Clinical Practice
دوره 7 شماره
صفحات -
تاریخ انتشار 2009