Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer

We found that the number of variations in multiple regions of the mitochondrial genome in the EC population was higher than that in the control group. Additionally, several potentially pathogenic variants were identified, and haplogroup D4 was suggested as a potentially protective haplogroup against the development of EC.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-09-22
DOI
https://doi.org/10.3389/fgene.2025.1643229
Primary Topic
RNA modifications and cancer
Type
article
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0.00
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article

Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer

Junbao Yang, Xiucheng Jiang, Bo Mu, Shuhan Duan et al.
Frontiers in Genetics
RNA modifications and cancer
article

Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer

Junbao Yang, Xiucheng Jiang, Bo Mu, Shuhan Duan, Bingbing Lv, Jinyue Ma, Cui Chen, Tao Tang, Mei Zhao, Lihua Jia, Yang Zhao, Simeng Ji, Lan Shi, Jinlong Pang
article en

Abstract

We found that the number of variations in multiple regions of the mitochondrial genome in the EC population was higher than that in the control group. Additionally, several potentially pathogenic variants were identified, and haplogroup D4 was suggested as a potentially protective haplogroup against the development of EC.

Frontiers in GeneticsVol. 16
North Sichuan Medical University (CN), Huzhou Vocational and Technical College (CN), Affiliated Hospital of North Sichuan Medical College (CN)
Openalex Percentile: Top 77%
RNA modifications and cancer
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Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer — Junbao Yang, Xiucheng Jiang, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS