Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2021.6744
Abstract: Key Points Question What breast tumor characteristics are associated with rare pathogenic protein truncating or missense variants in breast cancer susceptibility genes? Findings In this case-control study involving 46 387 control participants and 42 680 women with… read more here.
Keywords: susceptibility genes; pathology; breast cancer; cancer susceptibility ... See more keywords
The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Neuro-Oncology"
DOI: 10.1007/s11060-025-05140-8
Abstract: Heritable genetic contributions to familial and sporadic pituitary tumorigenesis are poorly understood. There is emerging evidence that germline variants in classical cancer susceptibility genes may increase the risk of pituitary tumour development. We aimed to… read more here.
Keywords: cancer; susceptibility genes; germline variants; cancer susceptibility ... See more keywords
Identification of the susceptibility genes for COVID-19 in lung adenocarcinoma with global data and biological computation methods
Sign Up to like & getrecommendations! Published in 2021 at "Computational and Structural Biotechnology Journal"
DOI: 10.1016/j.csbj.2021.11.026
Abstract: Introduction The risk of infection with COVID-19 is high in lung adenocarcinoma (LUAD) patients, and there is a dearth of studies on the molecular mechanism underlying the high susceptibility of LUAD patients to COVID-19 from… read more here.
Keywords: susceptibility genes; susceptibility; genes covid; luad patients ... See more keywords
Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Metabolism"
DOI: 10.1016/j.molmet.2017.03.011
Abstract: Objectives Genome-wide association studies (GWAS) have identified >100 loci independently contributing to type 2 diabetes (T2D) risk. However, translational implications for precision medicine and for the development of novel treatments have been disappointing, due to… read more here.
Keywords: susceptibility genes; insulin secretion; expression; beta ... See more keywords
A counseling framework for moderate-penetrance colorectal cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2018.12
Abstract: The inclusion of moderate-penetrance cancer susceptibility genes in multigene panel testing poses challenges regarding the optimal management of individuals found to have pathogenic variants in these genes. A recently published counseling framework has provided evidence-based… read more here.
Keywords: cancer; susceptibility genes; moderate penetrance; crc ... See more keywords
One step forward, two steps backward
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0660-5
Abstract: To the Editor: We wish to express our concerns about the policy statement of the American College of Medical Genetics and Genomics (ACMG) regarding secondary/incidental findings (SF) and population screening as it applies to cancer… read more here.
Keywords: cancer; susceptibility genes; population screening; cancer susceptibility ... See more keywords
A distinct class of pan-cancer susceptibility genes revealed by an alternative polyadenylation transcriptome-wide association study
Sign Up to like & getrecommendations! Published in 2024 at "Nature Communications"
DOI: 10.1038/s41467-024-46064-7
Abstract: Alternative polyadenylation plays an important role in cancer initiation and progression; however, current transcriptome-wide association studies mostly ignore alternative polyadenylation when identifying putative cancer susceptibility genes. Here, we perform a pan-cancer 3′ untranslated region alternative… read more here.
Keywords: cancer susceptibility; cancer; alternative polyadenylation; susceptibility genes ... See more keywords
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2024 at "Nature Communications"
DOI: 10.1038/s41467-024-47399-x
Abstract: Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known… read more here.
Keywords: colorectal cancer; crc; risk; susceptibility genes ... See more keywords
Multi-tissue expression and splicing data prioritise anatomical subsite- and sex-specific colorectal cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2025 at "Nature Communications"
DOI: 10.1038/s41467-025-60275-6
Abstract: Genome-wide association studies have suggested numerous colorectal cancer (CRC) susceptibility genes, but their causality and therapeutic potential remain unclear. To prioritise causal associations between gene expression/splicing and CRC risk (52,775 cases; 45,940 controls), we perform… read more here.
Keywords: colorectal cancer; cancer; susceptibility genes; risk ... See more keywords
A cross-tissue transcriptome-wide association study identified susceptibility genes for age-related macular degeneration
Sign Up to like & getrecommendations! Published in 2025 at "Scientific Reports"
DOI: 10.1038/s41598-025-89246-z
Abstract: Age-related macular degeneration (AMD) is a complex multifactorial disease with a significant genetic component. Despite extensive research efforts, the underlying molecular mechanisms remain elusive, necessitating innovative approaches to identify specific genes involved in the pathogenesis… read more here.
Keywords: susceptibility genes; cross tissue; amd; study ... See more keywords
Whole-exome sequencing for screening noise-induced hearing loss susceptibility genes
Sign Up to like & getrecommendations! Published in 2023 at "Acta Oto-Laryngologica"
DOI: 10.1080/00016489.2023.2201287
Abstract: Abstract Background High-throughput sequencing of genes indicating susceptibility to noise-induced hearing loss has not previously been reported. Aims/Objectives To identify and analyze genes associated with susceptibility to noise-induced hearing loss (NIHL) and characterize differences in… read more here.
Keywords: susceptibility genes; hearing loss; susceptibility; noise induced ... See more keywords