CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation

Author:

González-Martínez Silvia1,Kajabova Viera Horvathova2,Pérez-Mies Belén3,Carretero-Barrio Irene1,Sarrió David4,Moreno-Bueno Gema4,Gión María3,Perez-García José5,Cortés Javier5,Smolkova Bozena2,Palacios José1

Affiliation:

1. Ramón y Cajal Health Research Institute (IRYCIS)

2. Biomedical Research Center of the Slovak Academy of Sciences

3. Ramón y Cajal University Hospital

4. Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC)

5. International Breast Cancer Center (IBCC)

Abstract

Abstract The proposed role of CDH1 (E-cadherin gene) methylation as a mechanism of gene inactivation in Invasive Lobular Carcinoma (ILC) remains inconclusive. Using pyrosequencing, we analyzed CDH1 hypermethylation in E-cadherin deficient ILC cases with varied CDH1mutation status and Invasive Breast Carcinomas Non-Special Type (IBC-NSTs), finding no hypermethylation in any group of ILCs. In addition, CDH1 methylation correlated with the presence of Tumor-Infiltrating Lymphocytes (TILs). These findings challenge CDH1 methylation as a CDH1 inactivation mechanism in ILC and highlight TILs as a potential confounding factor in the gene methylation.

Publisher

Research Square Platform LLC

Reference12 articles.

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2. CDH1 (E-cadherin) Gene Methylation in Human Breast Cancer: Critical Appraisal of a Long and Twisted Story;Bücker L;Cancers,2022

3. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer;Ciriello G;Cell,2015

4. Assessment of the Molecular Heterogeneity of E-Cadherin Expression in Invasive Lobular Breast Cancer;Alexander J;Cancers,2022

5. Quantitative comparison of DNA methylation assays for biomarker development and clinical applications;The BLUEPRINT;Nat Biotechnol,2016

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