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Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes.

EBioMedicine - 1 Dec 2024

An Mingxing, Chen Congcong, Xiang Jun, Li Yang, Qiu Pinyu, Tang Yiru, Liu Xinyue, Gu Yayun, Qin Na, He Yuanlin, Zhu Meng, Jiang Yue, Dai Juncheng, Jin Guangfu, Ma Hongxia, Wang Cheng, Hu Zhibin, Shen Hongbing

Abstract excerpt

BACKGROUND: Deficiency in DNA-damage repair (DDR) genes, often due to disruptive coding variants, is linked to higher cancer risk. Our previous study has revealed the association between rare loss-of-function variants in DDR genes and the risk of lung cancer. However, it is still challenging to study the predisposing role of rare regulatory variants of these genes. METHODS: Based on whole-genome sequencing data...

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Share to Carcinoma, Non-Small-Cell Lung
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39631147
DOI: 10.1016/j.ebiom.2024.105480
PMCID: PMC11663791

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