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":"9 4","pages":"47-58"},"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":"9 1","pages":"1-12"},"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":"8 1","pages":"132 - 139"},"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":"8 1","pages":"140 - 146"},"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":"8 1","pages":"121 - 131"},"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":"8 1","pages":"109 - 119"},"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":"8 1","pages":"79 - 92"},"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":"8 1","pages":"100 - 93"},"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":"8 1","pages":"101 - 108"},"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":"An update on the role of common genetic variation underlying substance use disorders.","authors":"Emma C Johnson, Yoonhoo Chang, Arpana Agrawal","doi":"10.1007/s40142-020-00184-w","DOIUrl":"10.1007/s40142-020-00184-w","url":null,"abstract":"<p><strong>Purpose of the review: </strong>Sample size increases have resulted in novel and replicable loci for substance use disorders (SUDs). We summarize some of the latest insights into SUD genetics and discuss some next steps in addiction genetics.</p><p><strong>Recent findings: </strong>Genome-wide association studies have substantiated the role of previously known variants (e.g., rs1229984 in <i>ADH1B</i> for alcohol) and identified several novel loci for alcohol, tobacco, cannabis, opioid and cocaine use disorders. SUDs are genetically correlated with psychiatric outcomes, while liability to substance use is inconsistently associated with these outcomes and more closely associated with lifestyle factors. Specific variant associations appear to differ somewhat across populations, although similar genes and systems are implicated.</p><p><strong>Summary: </strong>The next decade of human genetic studies of addiction should focus on expanding to non-European populations, consider pleiotropy across SUD and with other psychiatric disorders, and leverage human and cross-species functional data to elucidate the biological mechanisms underlying SUDs.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"8 2","pages":"35-46"},"PeriodicalIF":1.4,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810203/pdf/nihms-1577466.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10294375","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}