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- W2045346543 abstract "BackgroundInherited cancer syndromes associated with acoustic neuroma (i.e. neurofibromatosis 2-NF2), pheochromocytoma (i.e. Von Hippel Lindau, NFl, multiple endocrine neoplasia syndromes, and hereditary paraganglioma syndrome), and colon cancer are well known. Lynch syndrome is the most common hereditary colon cancer syndrome and is caused by DNA mismatch repair dysfunction secondary to inherited mutations in one of MLHl, MSH2, MSH6, and less commonly PMS2. An increased risk for a variety of cancers is seen in patients with Lynch syndrome with the greatest risks being for colon and endometrial cancer. We report a Dutch patient with a history of bilateral acoustic neuromas diagnosed at 47, and pheochromocytoma and endometrial adenocarcinoma diagnosed at age 54. She had no family history or other signs/symptoms of NF2. Family history was significant for her brother having metachronous colon cancers at 42 and 51, and a maternal uncle having colon cancer in his 40s. The family does not fulfill either Amsterdam I or II criteria." @default.
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- W2045346543 date "2010-01-01" @default.
- W2045346543 modified "2023-10-13" @default.
- W2045346543 title "An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation" @default.
- W2045346543 doi "https://doi.org/10.1186/1897-4287-8-s1-p17" @default.
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