| High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome. | |
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MedLine Citation:
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PMID: 20087665 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women. |
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Authors:
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Christine Nyiraneza; Etienne Marbaix; Mireille Smets; Christine Galant; Christine Sempoux; Karin Dahan |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Familial cancer Volume: 9 ISSN: 1573-7292 ISO Abbreviation: Fam. Cancer Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100898211 Medline TA: Fam Cancer Country: Netherlands |
Other Details:
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Languages: eng Pagination: 383-7 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing
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genetics Carcinoma in Situ / genetics, pathology* Cell Transformation, Neoplastic / genetics* Colorectal Neoplasms, Hereditary Nonpolyposis / genetics, pathology* Endometrial Neoplasms / genetics, pathology* Endometriosis / genetics, pathology* Female Genetic Predisposition to Disease Heterozygote Humans Middle Aged Mutation Nuclear Proteins / genetics Pedigree Risk Factors |
| Chemical | |
Reg. No./Substance:
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0/Adaptor Proteins, Signal Transducing; 0/MLH1 protein, human; 0/Nuclear Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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