DNA methylation profiling in Trisomy 21 females with and without breast cancer

Frontiers in Oncology

Oncology

Ayman Al Haj Zen¹  Sara Alresheq¹  Yosra Bejaoui¹  Nady El Hajj²  Louise Maillebouis³  Sophie Durand³  Marie Vilaire-Meunier³  André Mégarbané⁴ 

[1] College of Health and Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar;College of Health and Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar;College of Science and Engineering, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar;Institut Jérôme Lejeune, Paris, France;Institut Jérôme Lejeune, Paris, France;Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon;

关键词: Down syndrome;    breast cancer;    DNA methylation;    epigenetics;    Trisomy 21;   

DOI  :  10.3389/fonc.2023.1203483

 received in 2023-04-10, accepted in 2023-07-03,  发布年份 2023

来源: Frontiers

【 摘 要 】

BackgroundDown Syndrome (DS) is the most common chromosome anomaly in humans and occurs due to an extra copy of chromosome 21. The malignancy profile in DS is unique, since DS patients have a low risk of developing solid tumors such as breast cancer however they are at higher risk of developing acute myeloid leukemia and acute lymphoblastic leukemia.MethodsIn this study, we investigated DNA methylation signatures and epigenetic aging in DS individuals with and without breast cancer. We analyzed DNA methylation patterns in Trisomy 21 (T21) individuals without breast cancer (T21-BCF) and DS individuals with breast cancer (T21-BC), using the Infinium Methylation EPIC BeadChip array.ResultsOur results revealed several differentially methylated sites and regions in the T21-BC patients that were associated with changes in gene expression. The differentially methylated CpG sites were enriched for processes related to serine-type peptidase activity, epithelial cell development, GTPase activity, bicellular tight junction, Ras protein signal transduction, etc. On the other hand, the epigenetic age acceleration analysis showed no difference between T21-BC and T21-BCF patients.ConclusionsThis is the first study to investigate DNA methylation changes in Down syndrome women with and without breast cancer and it could help shed light on factors that protect against breast cancer in DS.

【 授权许可】

Unknown   
Copyright © 2023 Bejaoui, Alresheq, Durand, Vilaire-Meunier, Maillebouis, Zen, Mégarbané and Hajj