Publications by authors named "Pinyu Qiu"
EBioMedicine
December 2024
Article Synopsis
- Deficiency in DNA-damage repair (DDR) genes is linked to a higher risk of lung cancer, especially due to rare loss-of-function variants, prompting research into the role of rare regulatory variants.*
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- By analyzing whole-genome sequencing data from nearly 3,000 lung cancer patients and 3,000 controls, researchers identified 750 rare functional regulatory variants (frVars) that affect the transcriptional activity of DDR gene promoters, with a notable increase in these variants among lung cancer cases.*
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- Specifically, down-regulated transcriptional variants (dr-frVars) were significantly associated with lung cancer risk, highlighting the importance of functional regulatory variants in DDR genes, alongside more commonly studied variants, in contributing to
