| Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. | |
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MedLine Citation:
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PMID: 21039432 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Jasperson KW, Samowitz WS, Burt RW. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP. |
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Authors:
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Kw Jasperson; Ws Samowitz; Rw Burt |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-9-16 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: - Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-11-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2010 John Wiley & Sons A/S. |
Affiliation:
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Huntsman Cancer Institute Department of Pathology Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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