| Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil. | |
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MedLine Citation:
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PMID: 19821155 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-colonic cancer. Male and female carriers of Lynch syndrome-associated mutations have different lifetime risks for CRC and in women endometrial cancer (EC) may be the most common tumor. Whenever Amsterdam criteria are not fulfilled, the currently recommended laboratory screening strategies involve microsatellite instability testing and immunohistochemistry staining of the tumor for the major MMR proteins. The aim of this study was to estimate the frequency of MMR deficiencies in women diagnosed with EC who are at-risk for Lynch syndrome. Thirty women diagnosed with EC under the age of 50 years and/or women with EC and a first degree relative diagnosed with a Lynch syndrome-associated tumor were included. To assess MMR deficiencies four methods were used: multiplex PCR, Single Strand Conformation Polymorphism, Immunohistochemistry and Methylation Specific-Multiplex Ligation-dependent Probe Amplification. Twelve (40%) patients with EC fulfilling one of the inclusion criteria had results indicative of MMR deficiency. The identification of 5 women with clear evidence of MMR deficiency and absence of either Amsterdam or Bethesda criteria among 10 diagnosed with EC under the age of 50 years reinforces previous suggestions by some authors that these women should be considered at risk and always screened for Lynch syndrome after informed consent. |
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Authors:
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Silvia Liliana Cossio; Patricia Koehler-Santos; Suzana Arenhart Pessini; Heleuza Mónego; Maria Isabel Edelweiss; Luise Meurer; Abdellatif Errami; Jordy Coffa; Hugo Bock; Maria Luiza Saraiva-Pereira; Patricia Ashton-Prolla; João Carlos Prolla |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Familial cancer Volume: 9 ISSN: 1573-7292 ISO Abbreviation: Fam. Cancer Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-09-15 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: 131-9 Citation Subset: IM |
Affiliation:
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Programa de Pós-Graduação em Medicina: Ciências Gastroenterológicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. slilianacossio@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brazil
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epidemiology Colorectal Neoplasms / epidemiology, genetics, physiopathology Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*, etiology, genetics DNA Methylation / genetics DNA Mismatch Repair / genetics* DNA Repair DNA-Binding Proteins / genetics Endometrial Neoplasms / complications*, epidemiology, genetics Female Humans Immunohistochemistry Male Microsatellite Instability* MutS Homolog 2 Protein / genetics* Risk |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/G-T mismatch-binding protein; EC 3.6.1.3/MutS Homolog 2 Protein |
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