Wen Luo

Disruption of CTCF binding by germline non-coding variants in CDKN2B suppress CDKN2A expression and predispose to melanoma

The paper identifies non-coding variants in CDKN2B that disrupt CTCF binding, reduce CDKN2A expression, and increase melanoma risk in families.

Endogenous mutational mechanisms and metabolic context shape endometrial cancer

This study identifies subtype-specific mutational mechanisms and links them to host metabolic factors in endometrial cancer using genomic and transcriptomic data from 440 tumors.

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

Genetic regulation of TERT splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential

This study identifies VNTR6-1 and rs10069690 as regulators of TERT splicing and expression, influencing cancer risk and telomere dynamics through altered telomerase isoform ratios.

A practical framework RNMF for the potential mechanism of cancer progression with the analysis of genes cumulative contribution abundance

The paper introduces RNMF, a framework for analyzing mutational signatures in cancer, identifying gene associations and survival outcomes in esophageal squamous cell carcinoma.

The landscape of somatic mutation in sporadic Chinese colorectal cancer

This study identifies novel somatic mutations and altered mutation frequencies in Chinese colorectal cancer patients using whole exome sequencing, highlighting differences from TCGA data.