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
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
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
Silencing susceptibility genes in potato hinders primary infection with Phytophthora infestans at different stages
Sign Up to like & getrecommendations! Published in 2022 at "Horticulture Research"
DOI: 10.1093/hr/uhab058
Abstract: Abstract Most potato cultivars are susceptible to late blight disease caused by the oomycete pathogen Phytophthora infestans. Here we report that the genetic loss of host susceptibility is a new source of resistance to prevent… read more here.
Keywords: susceptibility genes; infection; phytophthora infestans; resistance ... See more keywords
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
Sign Up to like & getrecommendations! Published in 2019 at "Schizophrenia bulletin"
DOI: 10.1093/schbul/sby140
Abstract: Genome-wide association studies (GWASs) have identified >100 susceptibility loci for schizophrenia (SCZ) and demonstrated that SCZ is a polygenic disorder determined by numerous genetic variants but with small effect size. We conducted a GWAS in… read more here.
Keywords: susceptibility genes; scz; susceptibility; jpn scz ... See more keywords
A pathway‐based association analysis identified FMNL1‐MAP3K14 as susceptibility genes for leprosy
Sign Up to like & getrecommendations! Published in 2018 at "Experimental Dermatology"
DOI: 10.1111/exd.13490
Abstract: The nuclear transcription factor‐κB (NF‐κB) plays a pivotal role in controlling both innate and adaptive immunity and regulates the expressions of many immunological mediators. Abundant evidences have showed the importance of NF‐κB pathway in the… read more here.
Keywords: susceptibility genes; leprosy pathway; map3k14; association ... See more keywords
Abstract 14: Elucidation of genetic susceptibility genes using next-generation sequencing (NGS) approach in nasopharyngeal carcinoma
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Cancer Research"
DOI: 10.1158/1557-3265.aacrahns17-14
Abstract: Nasopharyngeal carcinoma (NPC) is a malignant tumor that emerges from the epithelium of the nasopharynx, the upper part of the throat behind the nose. It has remarkable ethnic and geographical distribution. It is extremely common… read more here.
Keywords: susceptibility genes; nasopharyngeal carcinoma; genetic susceptibility; approach ... See more keywords
Adherence to breast cancer treatment guidelines according to pathogenic variants in cancer susceptibility genes in a population-based cohort.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.27_suppl.34
Abstract: 34 Background: Increasing use of germline genetic testing may have unintended consequences on breast cancer treatment. We do not know whether treatment deviates from guidelines for women with pathogenic variants (PV) in cancer susceptibility genes.… read more here.
Keywords: susceptibility genes; cancer susceptibility; treatment; breast cancer ... See more keywords