Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers

Cecilia Egoavil, Cristina Alenda, Adela Castillejo, Artemio Paya, Gloria Peiro, Ana Beatriz Sánchez-Heras, Maria Isabel Castillejo, Estefania Rojas, Victor 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

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

99 Citas (Scopus)


Background: 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. Methods: 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. Results: 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 (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. Conclusion: The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.

Idioma originalInglés
Número de artículoe79737
PublicaciónPLoS ONE
EstadoPublicada - 7 nov. 2013
Publicado de forma externa


Profundice en los temas de investigación de 'Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers'. En conjunto forman una huella única.

Citar esto