Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes
Discovery of cancer drivers has traditionally focused on the identification of protein-coding
genes. Here we present a comprehensive analysis of putative cancer driver mutations in …
genes. Here we present a comprehensive analysis of putative cancer driver mutations in …
The landscape of the heritable cancer genome
Genome-wide association studies (GWAS) have found hundreds of single-nucleotide
polymorphisms (SNP) associated with increased risk of cancer. However, the amount of …
polymorphisms (SNP) associated with increased risk of cancer. However, the amount of …
GxEsum: a novel approach to estimate the phenotypic variance explained by genome-wide GxE interaction based on GWAS summary statistics for biobank-scale data
Genetic variation in response to the environment, that is, genotype-by-environment
interaction (GxE), is fundamental in the biology of complex traits and diseases. However …
interaction (GxE), is fundamental in the biology of complex traits and diseases. However …
Genetic predisposition to lymphomas: Overview of rare syndromes and inherited familial variants
B Szmyd, W Mlynarski, A Pastorczak - Mutation Research/Reviews in …, 2021 - Elsevier
Approximately 10% of malignancies occur in carriers of germline mutations predisposing to
cancer. A high risk of developing lymphomas has been noted in many primary …
cancer. A high risk of developing lymphomas has been noted in many primary …
Risk single-nucleotide polymorphism-mediated enhancer–promoter interaction drives keloids through long noncoding RNA down expressed in keloids
CC Deng, LX Zhang, XY Xu, DH Zhu… - British Journal of …, 2023 - academic.oup.com
Background Keloids represent one extreme of aberrant dermal wound healing and are
characterized by fibroblast hyperproliferation and excessive deposition of extracellular …
characterized by fibroblast hyperproliferation and excessive deposition of extracellular …
[HTML][HTML] Allele-specific genome targeting in the development of precision medicine
J Wu, B Tang, Y Tang - Theranostics, 2020 - ncbi.nlm.nih.gov
The CRISPR-based genome editing holds immense potential to fix disease-causing
mutations, however, must also handle substantial natural genetic variations between …
mutations, however, must also handle substantial natural genetic variations between …
Germline variants that affect tumor progression
Germline variants have a rich history of being studied in the context of cancer risk. Emerging
studies now suggest that germline variants contribute not only to cancer risk but to tumor …
studies now suggest that germline variants contribute not only to cancer risk but to tumor …
[HTML][HTML] EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis
MS Elias, SC Wright, J Remenyi, JC Abbott… - Journal of Allergy and …, 2019 - Elsevier
Background Atopic dermatitis (AD) is a common, complex, and highly heritable inflammatory
skin disease. Genome-wide association studies offer opportunities to identify molecular …
skin disease. Genome-wide association studies offer opportunities to identify molecular …
Leveraging GWAS: path to prevention?
SJ Winham, ME Sherman - Cancer Prevention Research, 2024 - AACR
Developing novel cancer prevention medication strategies is important for reducing
mortality. Identification of common genetic variants associated with cancer risk suggests the …
mortality. Identification of common genetic variants associated with cancer risk suggests the …
Anticancer activity of two novel hydroxylated biphenyl compounds toward malignant melanoma cells
Melanoma, the deadliest form of skin cancer, is still one of the most difficult cancers to treat
despite recent advances in targeted and immune therapies. About 50% of advanced …
despite recent advances in targeted and immune therapies. About 50% of advanced …