| Autor: |
Cecilia Egoavil, Cristina Alenda, Adela Castillejo, Artemio Paya, Gloria Peiro, Ana-Beatriz Sánchez-Heras, Maria-Isabel Castillejo, Estefanía Rojas, Víctor-Manuel Barberá, Sonia Cigüenza, Jose-Antonio Lopez, Oscar Piñero, Maria-Jose Román, Juan-Carlos Martínez-Escoriza, Carla Guarinos, Lucia Perez-Carbonell, Francisco-Ignacio Aranda, Jose-Luis Soto |
| Jazyk: |
angličtina |
| Rok vydání: |
2013 |
| Předmět: |
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| Zdroj: |
PLoS ONE, Vol 8, Iss 11, p e79737 (2013) |
| Druh dokumentu: |
article |
| ISSN: |
1932-6203 |
| DOI: |
10.1371/journal.pone.0079737 |
| Popis: |
Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population.Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed.One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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