Current genetic medicine reports最新文献

{"title":"Updates in Prostate Cancer Research and Screening in Men at Genetically Higher Risk.","authors":"Elizabeth K Bancroft, Holly Ni Raghallaigh, Elizabeth C Page, Rosalind A Eeles","doi":"10.1007/s40142-021-00202-5","DOIUrl":"10.1007/s40142-021-00202-5","url":null,"abstract":"<p><strong>Purpose of review: </strong>Prostate cancer (PrCa) is the most common cancer in men in the western world and is a major source of morbidity and mortality. Currently, general population PrCa screening is not recommended due to the limitations of the prostate-specific antigen (PSA) test. As such, there is increasing interest in identifying and screening higher-risk groups. The only established risk factors for PrCa are age, ethnicity, and having a family history of PrCa. A significant proportion of PrCa cases are caused by genetic factors.</p><p><strong>Recent findings: </strong>Several rare germline variants have been identified that moderately increase risk of PrCa, and targeting screening to these men is proving useful at detecting clinically significant disease. The use of a \"polygenic risk score\" (PRS) that can calculate a man's personalized risk based on a number of lower-risk, but common genetic variants is the subject of ongoing research. Research efforts are currently focusing on the utility of screening in specific at-risk populations based on ethnicity, such as men of Black Afro-Caribbean descent. Whilst most screening studies have focused on use of PSA testing, the incorporation of additional molecular and genomic biomarkers alongside increasingly sophisticated imaging modalities is being designed to further refine and individualise both the screening and diagnostic pathway. Approximately 10% of men with advanced PrCa have a germline genetic predisposition leading to the opportunity for novel, targeted precision treatments.</p><p><strong>Summary: </strong>The mainstreaming of genomics into the PrCa screening, diagnostic and treatment pathway will soon become standard practice and this review summarises current knowledge on genetic predisposition to PrCa and screening studies that are using genomics within their algorithms to target screening to higher-risk groups of men. Finally, we evaluate the importance of germline genetics beyond screening and diagnostics, and its role in the identification of lethal PrCa and in the selection of targeted treatments for advanced disease.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39900846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding Covid-19 with the SARS-CoV-2 Genome.","authors":"Phoebe Ellis,&nbsp;Ferenc Somogyvári,&nbsp;Dezső P Virok,&nbsp;Michela Noseda,&nbsp;Gary R McLean","doi":"10.1007/s40142-020-00197-5","DOIUrl":"https://doi.org/10.1007/s40142-020-00197-5","url":null,"abstract":"<p><strong>Purpose of review: </strong>SARS-CoV-2, the recently emerged coronavirus (CoV) that is responsible for the current global pandemic Covid-19, first appeared in late 2019 in Wuhan, China. Here, we summarise details of the SARS-CoV-2 genome to assist understanding of the emergence, evolution and diagnosis of this deadly new virus.</p><p><strong>Recent findings: </strong>Based on high similarities in the genome sequences, the virus is thought to have arisen from SARS-like CoVs in bats but the lack of an intermediate species containing a CoV with even greater similarity has so far eluded discovery. The critical determinant of the SARS-CoV-2 genome is the spike (S) gene encoding the viral structural protein that interacts with the host cell entry receptor ACE2. The S protein is sufficiently adapted to bind human ACE2 much more readily than SARS-CoV, the most closely related human CoV.</p><p><strong>Summary: </strong>Although the SARS-CoV-2 genome is undergoing subtle evolution in humans through mutation that may enhance transmission, there is limited evidence for attenuation that might weaken the virus. It is also still unclear as to the events that led to the virus' emergence from bats. Importantly, current diagnosis requires specific recognition and amplification of the SARS-CoV-2 RNA genome by qPCR, despite these ongoing viral genome changes. Alternative diagnostic procedures relying on immunoassay are becoming more prevalent.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00197-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38828121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Implications of Mosaicism and Low-Level Mosaicism in Neurocutaneous Disorders","authors":"Heather B. Radtke, Leah Lalor, Donald G Basel, D. Siegel","doi":"10.1007/s40142-020-00193-9","DOIUrl":"https://doi.org/10.1007/s40142-020-00193-9","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00193-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46767494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utility of RNA Sequencing Analysis in the Context of Genetic Testing","authors":"Jackie Tahiliani, Jeanne Leisk, K. Aradhya, Karen J. Ouyang, S. Aradhya, K. Nykamp","doi":"10.1007/s40142-020-00195-7","DOIUrl":"https://doi.org/10.1007/s40142-020-00195-7","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00195-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47897948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics of Amyotrophic Lateral Sclerosis","authors":"Jenna M. Gregory, D. Fagegaltier, H. Phatnani, M. Harms","doi":"10.1007/s40142-020-00194-8","DOIUrl":"https://doi.org/10.1007/s40142-020-00194-8","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00194-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48949221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somatic Testing and Germline Genetic Status: Implications for Cancer Treatment Decisions and Genetic Counseling","authors":"Kelli Swan, K. C. Dougherty, S. Myers","doi":"10.1007/s40142-020-00192-w","DOIUrl":"https://doi.org/10.1007/s40142-020-00192-w","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00192-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47178001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring Beyond the DNA Sequence: A Review of Epigenomic Studies of DNA and Histone Modifications in Dementia","authors":"Lachlan Macbean, Adam R. Smith, K. Lunnon","doi":"10.1007/s40142-020-00190-y","DOIUrl":"https://doi.org/10.1007/s40142-020-00190-y","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00190-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45725016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fertility Preservation for Genetic Indication","authors":"L. Black, Erica S. Godart, P. Turek, I. Ryan","doi":"10.1007/s40142-020-00188-6","DOIUrl":"https://doi.org/10.1007/s40142-020-00188-6","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00188-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44927830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When the Path to Parenthood Does Not Go as Planned: Genetic Counseling for Infertility and Miscarriage","authors":"J. Flanagan, E. A. Johnson, Raeann L. Kragenbring, Jennifer R. Leonhard, Heidi R. Albers","doi":"10.1007/s40142-020-00189-5","DOIUrl":"https://doi.org/10.1007/s40142-020-00189-5","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00189-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45467838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recent advances in genetic studies of alcohol use disorders.","authors":"Ishaan Gupta, Rohan Dandavate, Pallavi Gupta, Viplav Agrawal, Manav Kapoor","doi":"10.1007/s40142-020-00185-9","DOIUrl":"10.1007/s40142-020-00185-9","url":null,"abstract":"<p><strong>Purpose of review: </strong>Alcohol use disorder (AUD) is a complex genetic disorder with very high heritability. This polygenic disorder not only results in increased morbidity and mortality, it is also a substantial social and economic burden on families and the nation. For past three decades, several genetic studies were conducted to identify genes and pathways associated with AUD. This review aims to summarize past efforts and recent advances in genetic association studies of AUD and related traits.</p><p><strong>Recent findings: </strong>Initial genetic association studies achieved a limted success and suffered from low power due to small sample sizes. AUD is a polygenic trait and data from several thousands individuals was required to identify the genetic factors of small effect sizes. The scenario changed recently with technological advances and significant reduction in cost of the genome wide association analyses (GWAS). This enabled researchers to generate genomic data on mega biobanks and cohorts with access to extensive clinical and non-clinical phenotypes. Public access to data from biobanks and collaborative efforts of researchers lead to identification of several novel loci associated with AUDs and related traits. Efforts are now underway to identify the causal variants under the GWAS loci to identify target genes and biological mechanisms underpining AUDs. Many GWAS variants occur in promoter or enhancer regions of the genes and are involved in regulation of gene expression of causal genes. This, large amounts of \"omics\" data from projects such as \"ENCODE\", RoadMap and GTEx is also helping researchers to integrate \"multi-omics\" data to interpret functional significance of GWAS variants.</p><p><strong>Summary: </strong>With current review, we aim to present the recent advances in genetic and molecular studies of AUDs. Recent successes in genetic studies of AUDs will definetely motivate researchers and lead to better therapeutic interventions for this complex disorder.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748121/pdf/nihms-1577465.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38731370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}